DATABASE MUTAZIONI MFN2

Exon	Protein change	Inheritance	Ethnicity	Onset age	Symptoms at onset	Reference	Additional remarks
	Glu 288 Asp	Familial		22-29y	weakness and sensory loss in the anterior compartments of both legs foot drop	Bergamin et al., 2014	Ataxic steppage, gait, severe lower limb atrophy, weakness, and Areflexia; sensory–motor axonal polyneuropathy
	Thr356A la	Familial	Chinese	8-16y	Foot deformities, severe muscle atrophy,	Wang et al., 2012
2	Arg104Trp	Sporadic	German	3 y	slowly progressive motor and sensory polyneuropathy in childhood	Brockmann et al., 2008	One patient with gait disturbance, increased OT reflexes, optic atrophy, saccadic interruption of horizontal eye movements, secondary macrocephaly, impaired hand function, abnormal MRI; one patients with gait disturbance, optic atrophy, impaired hand function, normal MRI
9	Ser378Pro	Sporadic	German	7 y	Slowly progressive motor and sensory polyneuropathy in childhood	Brockmann et al., 2008	Gait disturbance, increased OT reflexes, normal MRI
	IVS5-1G>C	Familial	German	7 y	Slowly progressive motor and sensory polyneuropathy in childhood	Brockmann et al., 2008	Gait disturbance, secondary macrocephaly, abnormal MRI
	Arg94Gln (heterozygous mutations)	Familial	Japanese	3 y	Foot drop and gait disturbance	Kijima et al., 2005	CMT2 phenotype
	Phe223Leu	Familial	Japanese	7 y	Walking difficulties and leg pain	Kijima et al., 2005	Congenital dislocation of the hip and mild mental retardation, fatty, sleep apnea and classical CMT2 phenotype
	Thr236Met	Sporadic	Japanese	7 y	Running difficulties	Kijima et al., 2005	CMT2 phenotype
	Val244Met	Sporadic	Japanese	10 m	walking difficulties	Kijima et al., 2005	CMT2 phenotype with no sensory impairments
	Phe284Tyr	Sporadic	Japanese	10 y	pes cavus	Kijima et al., 2005	slowly progressive muscle weakness of lower legs, atrophy in the lower extremities, no sensory impairments and no decreased tendon reflexes
	Lys357Asn	Sporadic	Japanese	10 m	Frequent falls	Kijima et al., 2005	CMT2 phenotype with no sensory impairments
	Glu424Gly	Familial	Japanese	10 y	congenital hearing loss of the right ear and pain in the lower extremities during exercise	Kijima et al., 2005	severe leg pain at work, drop feet, CMT2 phenotype with mildly decreased sensitivity to vibration, normal or slightly elevated deep tendon reflexes
8	Arg259Leu	Sporadic	Caucasian	19 y	progressive leg weakness and numbness	Ajroud-Driss et al., 2009	CMT2 phenotype with brisk deep tendon reflexes except for the ankle jerks that were depressed. He had bilateral Hoffman sign with normal tone and flexor plantar response.
5	Gly127Asp	Sporadic	Korean	16 y		Chung et al., 2006	Lower limbs muscles weakness, sensory loss (pain>vibration), extensor plantar responses
6	His165Arg	Familial	Korean	10 and 50 y		Chung et al., 2006	Mild muscular weakness, pain and vibration sensory loss, tremor, SNHL, hoarseness
6	His165Arg	Familial	Korean	14 y		Chung et al., 2006	Mild muscular weakness, pain and vibration sensory loss
11	Thr362Met	Familial	Korean	42 y		Chung et al., 2006	Mild lower extremities muscle weakness and atrophy, transient sensory loss
11	Met376Thr	Familial	Korean	39 y		Chung et al., 2006	Mild muscular weakness, pain and vibration sensory loss
	Ala164Val Thr362Met	Familial, CH		3 y	Falls	Nicholson et al., 2008	Slightly deaf, CMT2 phenotype with upper and lower limbs involvement
	Asp214Asn Cys390Arg	Familial, CH		3 y	Talipes	Nicholson et al., 2008	CMT2 phenotype with upper and lower limbs involvement
	Arg707Trp	Familial		2 y	Clubfoot	Nicholson et al., 2008	Slightly deaf, Lipodystrophy, CMT2 phenotype with upper and lower limbs involvement
4	Leu92Pro	Unknown	Belgium	1 y		Verhoeven et al., 2006	nerve biopsy revealed a similar loss of large myelinated fibres with even low evidence of regeneration
4	Arg100Gly	Familial	Bulgaria	10 y		Verhoeven et al., 2006
5	Pro123Leu	Familial	Germany	2 y		Verhoeven et al., 2006	sural nerve biopsy with an apparent loss of large myelinated nerve fibres
6	His165Arg	Familial	Serbia	6 y		Verhoeven et al., 2006
6	His165Tyr	Familial	Czech Republic	12 y		Verhoeven et al., 2006
8	Arg250Trp Arg400X	Unknown	Poland	4 y		Verhoeven et al., 2006
8	Arg250Gln	Unknown	Belgium	21 y		Verhoeven et al., 2006
9	His277Arg	Familial	Germany	10 y; 15 y		Verhoeven et al., 2006	parkinsonism occurred at older age
11	Met376Ile	Familial	Czech Republic	35 y		Verhoeven et al., 2006
11	Leu379_Met381del	Familial	USA	3 y		Verhoeven et al., 2006
11	Gln386Pro	De novo	Israel	1.5 y		Verhoeven et al., 2006
18	Leu710Pro	Unknown	Bulgaria	6 y		Verhoeven et al., 2006
19	Gln751X	De novo	Czech Republic	4 y		Verhoeven et al., 2006
19	Gln751	Familial	Belgium	5 y		Verhoeven et al., 2006
5	His128Arg	De novo		< 5 y		Calvo et al., 2009	Severe and asymmetrical phenotype
5	Ser156Ile	Sporadic		< 10 y		Calvo et al., 2009	Moderate phenotype
9	His277Tyr	Familial		> 10 y		Calvo et al. 2009	Moderate phenotype with pyramidal signs, vasomotor troubles
11	Arg364Pro	Familial		< 5 y		Calvo et al. 2009	Severe phenotype
11	Arg364Pro	Familial		< 5 y		Calvo et al., 2009	Severe phenotype
17	Arg364Gln	Sporadic		> 10 y		Calvo et al., 2009	Moderate phenotype
19	Phe665Ser	Familial		< 10 y		Calvo et al., 2009	Moderate and asymmetrical phenotype
	Trp740Cys	Familial		< 10 y		Calvo et al., 2009	Mild phenotype with pyramidal signs
19	Trp740Cys	Familial		< 10 y		Calvo et al., 2009	Moderate and asymmetrical phenotype with pyramidal signs, vasomotor troubles, tremor
	Leu745Pro	Familial		> 10 y		Calvo et al., 2009	Mild phenotype and vasomotor problems
19	Leu745Pro	Familail		> 10 y		Calvo et al., 2009	Mild phenotype
	Met747Thr	De novo		< 10 y		Calvo et al., 2009	Moderate phenotype
	Lys38del	Familial, CH	Italian	3 y	Foot drop	Polke et al., 2011
4	Val69Phe	Familial	Turkey	5-15 y		Züchner et al., 2004
4	Leu76Pro	Familial	European	7-44 y		Züchner et al., 2004
4	Leu92Arg	Sporadic		3 y		McCorquodale et al., 2011
4	Leu92Pro	Sporadic	Korean	1 y		Chung et al., 2010 Chung et al., 2006	Severe phenotype
	Arg94Gly	Sporadic		1 y		Feely et al., 2011	early onset CMT
	Arg94Gly	Sporadic		1 y		Feely et al., 2011	CMT neuropathy score: moderate
	Arg94Gly	Sporadic		1 y		Feely et al., 2011	CMT neuropathy score: severe
4	Arg94Gln	Familial	Russia	6-17 y		Züchner et al., 2004	CMT neuropathy score: moderate
4	Arg94Gln	Familial	Japan	3-15 y		Züchner et al., 2004
	Arg94Gln	Sporadic		4 y		Feely et al., 2011
	Arg94Gln		Chinese			Zhang et al., 2009	CMT neuropathy score: severe
	Arg94Gln	Sporadic	Germany	2 y		Neusch et al., 2007
4	Arg94Gln	Familial	Norwegian	4 y	Stumble and dorsal toes weakness	Braathen et al., 2010	early-onset CMT2 with no central nervous system pathology
4	Arg94Gln	Familial	Spain	I decade	Severe sensory and motor neuropathy	Casasnovas et al., 2010; Banchs et al., 2008
4	Arg94Trp	Familial	AfroAmerican	3-8 y	Axonal neuropathy with optic atrophy	Züchner et al., 2006	optic atrophy
	Arg94Trp	Sporadic		1 y		Feely et al., 2011	Axonal neuropathy with optic atrophy
	Arg94Trp	Sporadic		4 y		Feely et al., 2011	CMT neuropathy score: moderate
	Arg94Trp	Sporadic		1 y		Feely et al., 2011	CMT neuropathy score: severe
4	Arg94Trp	Familial	Korea	8 y	Frequent fall, weakness in LE	Cho et al., 2007	CMT neuropathy score: severe
4	Arg94Trp	Familial	Norwegian	4 y	weakness in LE	Braathen et al., 2010	One pt with CMT1 phentype, one pt with weakness in legs and pes cavus
	Arg94Trp	Familial	Korean	8 y		Chung et al., 2010
	Arg94Trp	Sporadic	Korean	8 y		Chung et al., 2010	early onset CMT
4	Arg94Trp	Familial	Spain	I decade	Moderate sensory/motor neuropathy	Casasnovas et al., 2010	early onset CMT
	Arg94Trp		China	5 y	progressive distal limb muscle weakness and wasting	Lv et al., 2013
	Gly103TrpfsX41	Familial	Spain	22 y	Classic CMT2 phenotype, moderate instability	Sivera et al., 2013
4	Arg104Trp	Familial	Italy	2 y; 4 y	Awkward walk with frequent falling	Del Bo et al., 2008
4	Arg104Trp	isolated case, de novo		3 y	Progressive weakness in his legs	Genari et al., 2011	Cognitive impairment may be another feature of the MFN2-related phenotype.
4	Arg104Trp	isolated case, de novo	Greek	< 1 y	Developmental delay	Baets et al., 2011	Severe and early onset axonal neuropathy plus learning problems, obesity, glucose intolerance, leukoencephalopathy, brain atrophy, evidence of myelin involvement and mitochondrial structural changes on sural nerve biopsy.
4	Arg104Trp		Japanese	Childhood		Abe et al., 2011
	Thr105Met	Sporadic		1 y		Feely et al., 2011
	Thr105Met	Familial	USA			Lawson et al., 2005	CMT neuropathy score: mild
IV5	Thr105LeufsX2	Familial	Korea	31 y	late-onset AD mild axonal CMT	Park et al., 2012
	Gly127Val		Germany	48 y	weakness in LE	Engelfried et al., 2006	double mutation in CIS with c.668T>A
	Asn131Ser	Familial	Turkey	4 y	severe and typical early onset CMT1	Fischer et al., 2012
	Cys132Thr		Chinese			Zhang et al., 2009
	Leu146Phe	Familial	Northern European, Cherokee American Indian descent			Klein et al., 2011
	Thr159_Gln162del	Familial	Han Chinese	13 y		Lin et al., 2011
intron5		Sporadic	Korean	7 y		Chung et al., 2010
intron5	Thr159_Gln162del	Familial	Taiwan	13 y		Lin et al., 2011	early onset CMT
del intron 5-ex6	Val160fsX26	Familial	French	3 y	axonal degeneration, myelin modifications, and intra-axonal mitochondria with distorted cristae	Vital et al., 2012
6	His165Leu	Familial	Italian	14 y	Weakness, mild distal leg sensory loss	Marchesi et al., 2011	Simultaneous heterozygous MFN2 and GDAP1 mutations
	His165Arg	Sporadic	Korean	7 y		Chung et al., 2010	Co-occurence of ALS and CMT2A
	His165Arg	Familial	Korean	16 y	Weakness in LE	Cho et al., 2007	early onset CMT
7	Ile203met	Familial	Spain	II decade	Moderate sensory/motor neuropathy	Casasnovas et al., 2010
7	Thr206Ile	Familial	European	3 y	Axonal neuropathy with optic atrophy	Züchner et al., 2006	tremor
	Asp210Val	Familial	Tunisian		LL weakness + visual, hearing deficit	Rouzier et al., 2012	Axonal neuropathy with optic atrophy
	Ile213Thr	Familial	USA			Lawson et al., 2005	mDNA instability + optic atrophy ‘plus’ phenotype
7	Phe216Ser	Familial, CH	British	12-18 m	Foot drop	Polke et al., 2011
	Leu218Pro		Norwegian			Ostern et al., 2013
del ex7-8		Familial, CH	British	12-18 m	Foot drop	Polke et al., 2011
7	Phe223Tyr	familial	Korea	31 y	late-onset AD mild axonal CMT	Park et al., 2012
	Leu233Val	familial	Taiwan	12 y		Lin et al., 2011	double mutation in CIS with c.474+4A>G
	Leu248Val	familial		1 y		Feely et al., 2011
	Leu248Val	sporadic		1 y		Feely et al., 2011	CMT neuropathy score: moderate
	Leu233Val	familial	Han Chinese	12 y		Lin et al., 2011	CMT neuropathy score: severe; profound proprioception loss
	Ser249Phe		Japanese	Childhood		Abe et al., 2011
8	Arg250Gln	familial		12 y		McCorquodale et al., 2011
8	Pro251Ala	familial	Italy	8-50 y		Züchner et al., 2004
	Pro251Arg	familial		1 y		Feely et al., 2011
	Pro251Arg	sporadic		1 y		Feely et al., 2011	CMT neuropathy score: moderate
8	Pro251Arg	familial		2 y		McCorquodale et al., 2011	CMT neuropathy score: severe; profound proprioception loss
	Pro251Leu	sporadic	Spain	25 y	Classic CMT2 phenotype	Sivera et al., 2013	Wheelchair
8	Asn252Lys	familial	Spain	II decade	Severe sensory and motor neuropathy	Casasnovas et al., 2010
8	Ser263Pro	familial	Korea	13 y	Weakness in LE	Cho et al., 2007 Chung et al., 2006	Axonal neuropathy with optic atrophy
	Val273Gly	familial	USA			Lawson et al., 2005
9	Gln276Arg	familial	European	10 y	Axonal neuropathy with optic atrophy	Züchner et al., 2006
	Gln276His	familial	Chinese	9 y	Steppage gait; progressive distal muscle weakness and atrophy in lower and upper limbs	Ching et al., 2010	Axonal neuropathy with optic atrophy
9	Gln276His	familial	Spain	III decade	Mild sensory and motor neuropathy	Casasnovas et al., 2010; Banchs et al., 2008	Intrafamilial variability was observed
9	Arg280His	familial	European	11-35 y		Züchner et al., 2004
	Arg280His					Vinci et al., 2011
	Arg280His	sporadic	Korean	8 y		Chung et al., 2010	Severe lower-limbs sensory worsening with loss of independent ambulation after epidural anesthesia for hip osteo-synthesis,
9	Gly298Arg	familial	Spain	II decade	Moderate sensory/motor neuropathy	Casasnovas et al., 2010	early onset CMT
9	Glu308X	Familial, CH	British	14 months	Difficulty walking	Polke et al., 2011
	Gl u347Val		Germany	childhood		Engelfried et al., 2006	Nonsense-mediated decay in MFN2 transcripts sequencing
	Ser350Pro	sporadic	Korean	3 y		Chung et al., 2010
	Ser350Pro	familial	Korea	3 y	Gait abnormality	Cho et al., 2007	early onset CMT
	Thr356Ala	familial	China	8 y	Hollow foot, claw hand deformity, and severe muscle atrophy of the lower and upper distal extremities	Wang et al., 2012
11	His361Tyr	familial	European	1 y	Axonal neuropathy with optic atrophy	Züchner et al., 2006
	His361Tyr	sporadic		1 y		Feely et al., 2011	Axonal neuropathy with optic atrophy
	Thr362Met	Familial, CH	Italian	3 y	Foot drop	Polke et al., 2011	CMT neuropathy score: severe
11	Arg364Trp	familial	European	1 y	Axonal neuropathy with optic atrophy	Züchner et al., 2006
11	Arg364Trp	sporadic		1 y		Feely et al., 2011	Axonal neuropathy with optic atrophy
11	Arg364Trp	sporadic		1 y		Feely et al., 2011	CMT neuropathy score: severe
11	Arg364Trp	sporadic		1 y		Feely et al., 2011	CMT neuropathy score: severe; profound proprioception loss
11	Arg364Trp	familial		2 y		Feely et al., 2011	CMT neuropathy score: severe
11	Arg364Trp	familial		2 y		Feely et al., 2011	CMT neuropathy score: severe
11	Arg364Trp	familial	Korean	8 y		Chung et al., 2010	CMT neuropathy score: severe
11	Arg364Trp	sporadic	Korean	3 y		Chung et al., 2010	early onset CMT
11	Arg364Trp	familial	Korean	5 y		Chung et al., 2010	early onset CMT
11	Arg364Trp	familial	Korean	4 y		Chung et al., 2010	early onset CMT
11	Arg364Trp	familial	Korean	8 y		Chung et al., 2010	early onset CMT
11	Arg364Trp	sporadic	Korean	3 y		Chung et al., 2010	early onset CMT
11	Arg364Trp	sporadic	Taiwan	2 y		Lin et al., 2011	early onset CMT
11	Arg364Trp	sporadic	Taiwan	2 y		Lin et al., 2011
	Arg364Trp	sporadic	Han Chinese	2 y		Lin et al., 2011
	Arg364Trp	sporadic	Han Chinese	2 y		Lin et al., 2011
	Arg364Trp		China	6 y	progressive distal limb muscle weakness and wasting	Lv et al., 2013
11	Arg364Gln	familial	Spain	III decade	Moderate sensory/motor neuropathy	Casasnovas et al., 2010 Banchs et., 2008
11	Arg364Pro	sporadic		22 y	slowly progressive muscle atrophy and weakness of distal extremities and steppage gait	Takahashi et al., 2012
	Arg364Pro	sporadic		2 y		Feely et al., 2011	patient with axonal neuropathy and optic atrophy
11	Met376Leu	familial		26 y		McCorquodale et al., 2011	CMT neuropathy score: severe; profound proprioception loss
	Met376Ile		Germany	22 y	Muscle cramps in LE	Engelfried et al., 2006
11	Met376Val	familial	Spain	III decade	Severe sensory and motor neuropathy	Casasnovas et al., 2010
	Cys390Phe	sporadic		1 yr		Feely et l., 2011
	Arg400Pro	isolated case	Italian/Irish	< 1 y	delayed motor milestones	Baets et al., 2011	CMT neuropathy score: severe
12	Arg418X	familial	European	1 y	Axonal neuropathy with optic atrophy	Züchner et al., 2006	Parental mosaicism in asymptomatic mother
	Arg418X	sporadic	Korean	1 y		Chung et al., 2010	Axonal neuropathy with optic atrophy
	Arg468His	Familial, associated to GDAP1 mutation	Spanish	3 y	severe distal muscle weakness	Cassereau et al., 2011	early onset CMT
14	Arg468His	familial		Childhood		McCorquodale et al., 2011
14	Arg468His	familial	Spain	III decade	Moderate sensory/motor neuropathy	Casasnovas et al., 2010	This variant may represent rare benign polymorphism
14	Arg468His	familial	Spain	III decade	Mild sensory and motor neuropathy	Casasnovas et al., 2010
14	Arg468His	sporadic	Spain	V decade	Moderate sensory/motor neuropathy	Casasnovas et al., 2010
14	Arg468His	familial	Spain	V decade	Mild sensory and motor neuropathy	Casasnovas et al., 2010
14	Arg468His	sporadic	Spain	V decade	Mild sensory and motor neuropathy	Casasnovas et al., 2010
14	Arg468His	familial	Spain	V decade	Mild sensory and motor neuropathy	Casasnovas et al., 2010
	Arg468His		Germany	26 y	paraeshesia in LE	Engelfried et al., 2006
14	Arg468His	familial	Norwegian	2 y	Foot deformity and stumbled	Braathen et al., 2010	CMT1 phenotype
15	Arg519Pro	Familial, CH	British	14 m	Difficulty walking	Polke et al., 2011
15	Asn570Ser	familial	Norwegian	63 y	Right foot weakness+walking difficulties	Braathen et al., 2010	dHMN phenotype
18	Val705Ile	familial		12 y		McCorquodale et al., 2011	dHMN phenotype
	Val705Ile		Germany	6 y	foot deformities	Engelfried et al., 2006
18	Val705Ile	familial	Norwegian	10 y	Weakness in legs and pes cavus	Braathen et al., 2010
18	Val705Ile	familial	Norwegian	47 y	Paresthesia in feet	Braathen et al., 2010
18	Arg707Trp	familial	Norwegian	44 y	Muscular pain during exercise in left leg	Braathen et al., 2010
18	Arg707_Asn709del	sporadic		5 y		McCorquodale et al., 2011	Intermediate CMT
	Ala716Thr	familial		2 y		Feely et al., 2011
18	Ala716Thr	familial	Norwegian	23 and 50 y	Recurrent ankle sprains, weakness and reduced balance	Braathen et al., 2010	One with intermediate CMT with severe CMT neuropathy score, one with paresthesia in foot
	Leu724Pro		Japanese	childhood		Luigetti et al., 2011
	Ala738Val	isolated case		35 y	Difficulty walking	Luigetti et al., 2011
19	Ala738Val	sporadic	Italy	35 y	walking difficulties	Luigetti et al., 2011	Non consanguineous healthy parents
19	Trp740Ser	familial	European	5-52 y		Züchner et al., 2004
	Trp740Ser	familial		16 y		Feely et al., 2011
	Trp740Ser	familial		33 y		Feely et al., 2011	CMT neuropathy score: moderate
	Trp740Ser	familial		5 y		Feely et al., 2011	CMT neuropathy score: mild
	Trp740Ser	familial		15 y		Feely et al., 2011	CMT neuropathy score: moderate
	Trp740Arg		China			Lv et al., 2013	CMT neuropathy score: mild
	Glu744Met	familial	Han Chinese	8 y		Lin et al., 2011
	His750Pro	familial		6 y		Feely et al., 2011
	Tyr752X	sporadic		14 y		Feely et al., 2011	CMT neuropathy score: severe
	Leu753 fs		Germany	62 y	gait ataxia	Engelfried et al., 2006	CMT neuropathy score: severe; profound proprioception loss
	Arg94Gly			5 y		Feely SME, 2011
	Arg94Leu			5 y		Pipis M, 2020
	Arg95Gly	familial		31 y		Dankwa L, 2019
	Lys98Glu	familial	Australia	5 y		Vallat JM, 2008
	Ala100Ser			45 y		Verhoeven K, 2006
	Arg104Gln			7 y		Pipis M, 2020	may cause neurodevelopmental delay
	Arg104Leu	familial	Tunisia	7 y		Sitarz K, 2012
	Thr105Ala	familial	Tunisia	3 y		Sitarz K, 2012
	Lys109Arg	sporadic	Japan	10 y	impossible to run	Ando M, 2017
	Asn131Thr			10 y		Pipis M, 2020
	Ala166Val		Chinese	27 y		Sun B, 2017
	Cys217Trp		Chinese	5 y	Clubfoot	Xie Y, 2016
	Thr232Asn	familial	Tunisia	7 y		Sitarz K, 2012
	Phe240Leu			3 y		Amiott E, 2008
	Phe241Leu			12 y		Pipis M, 2020
	Val244Met	sporadic	Japanese	4 y	Foot drop	Kijima K, 2005
	Leu248Val	familial		1 y		Feely SME, 2011
	Leu248His			2 y		Feely SME, 2011
	Ser249Thr		Japanese	10 y		Abe A, 2011
	Ser249Cys		Japanese	10 y		Abe A, 2011
	Pro251Ser			7 y		Beaudonnet
	Arg259Cys	sporadic		14-40 y		Bombelli F, 2014
	Ser263Phe	familial	Korean	45 y		Chung KW, 2006
	Glu288Lys	familial	Italian	29 y		Bergamin C, 2016
	Lys307Glu	sporadic	Chinese	7 y		Xie Y, 2016
	Lys357Asn	sporadic	Japanese	4 y	Foot drop	Kijima K, 2005
	Thr362Arg			32 y		Pipis M, 2020
	Ala383Val	familial	Italian	10-50 y		Muglia M, 2007
	Gln386Pro	sporadic		1.5 y		Verhoeven K, 2006
	Leu673Pro			12 y		Pipis M, 2020
	Trp740Arg			5-6 y		Lv H, 2013
	Leu741Trp			24 y		Dankwa L, 2019
	Glu744Lys	familial	Korean	8 y		Choi B-O, 2015
	Tyr752X			14 y		Feely SME, 2011

AD: autosomic dominant | CH: compound heterozygous | LL: lower limbs

DATABASE MUTAZIONI MFN2

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