Table 2.

Overview of MTMR2 related Charcot-Marie-Tooth disease type 4B1.

References	Age/Gender (M/F)	Age at onset (months)	Nerve palsy	Skeletal deformities	Systemic problems	Demyelinating PNP	MTMR2 mutation
Houlden et al., 2001	16 years/M	13	Vocal	No	Stridor, Dysarthria	Yes	c.308G>A; p.Gly103Glu
	5 years/M	12	No	No	No	No	c.324del; p.Asp109IlefsTer17
Nelis et al., 2002	10 years/M	24	No	No	No	Yes	c.847C>T; p.Arg283Trp
	16 years/F	24	No	No	No	No	c.847C>T; p.Arg283Trp
Verny et al., 2004	18 years/F	Birth	No	Pes equinovarus	Dysarthria, respiratory difficulties	Yes	c.1749G>A; p.Trp583Ter
Parman et al., 2004	21 years/F	Delayed motor milestones	No	Pes cavus, claw hands, scoliosis	Hypophonia	Yes	c.681_682ins(446); p.Thr228fsTer275
	24 years/F		No	Pes cavus, hammer toe	Hypophonia, tremor	Yes	c.841_844del; p.Ile281LeufsTer10
Nouioua et al., 2011	16 years/M	24	Vocal, facial	Pes equinovarus, claw hands, chest	Stridor	Yes	c.331dup; p.Arg111LysfsTer24
	12 years/M	24	Vocal, facial	Claw hands, chest	Stridor	Yes	c.331dup; p.Arg111LysfsTer24
	9 years/M	12	Vocal, facial	Pes equinovarus, claw hands, chest	Stridor	Yes	c.331dup; p.Arg111LysfsTer24
Luigetti et al., 2013	48 years/M	No data	No	No	Facial weakness	No	c.1534del; p.Leu512TyrfsTer33
	30 years/F	No data	No	No	Respiratory failure	Yes	c.1534del; p.Leu512TyrfsTer33
Murakami et al., 2013	30 years/F	156	No	Claw hands	No	Yes	c.1882_1885del; p.Arg628ProfsTer18
Scott et al., 2016	28 years/M	48	No	Claw hands	Facial weakness, optic neuritis, cervical Schwannoma	Yes	c.1768C>T; p.Gln590Ter
Zambon et al., 2017	3 years/F	12–18	Vocal	Pes planus, foot-drop	Facial weakness, hoarseness, stridor, dysphagia	Yes	c.484 C>T; p.Arg162Ter
Abdalla-Moady et al., 2018	31 years/F	132	No	Pes cavus	No	No data	c.1877_1878insAGAG, p.Ala629GlufsTer31
Current report: Family I 3 siblings	18 years/M	48	Vocal	Pes cavus, mild pectus carinatum, thoracic kyphosis	Facial weakness, dysphagia, speech impairment, adenoid hypertrophy, arytenoid subluxation, myopic refractive error	Yes	c.1490dupC; p.Phe498IlefsTer2
	17 years/F	48	Vocal	Pes cavus, mild pectus carinatum	Facial weakness, dysphagia, speech impairment, adenoid hypertrophy, arytenoid subluxation, myopic refractive error	Yes	c.1490dupC; p.Phe498IlefsTer2
	12 years/M	48	No	Pes cavus, mild pectus carinatum, thoracic kyphosis	Facial weakness, speech impairment, adenoid hypertrophy, hypoplastic arytenoid cartilages with medial deviation	Yes	c.1490dupC; p.Phe498IlefsTer2
Current report Family II 3 siblings	29 years/F	84	No	Pes cavus, pectus carinatum, thoracic kyphosis	Facial weakness, severe dysphonia dysphagia, respiratory attacks	Yes	Splice site c.1479+1G>A
	26 years/F	18	No	Pes cavus, club feet, clenched hands	Facial weakness, bulbar muscle weakness, bilateral glaucoma with loss of vision	Yes	Splice site c.1479+1G>A
	24 years/M	72	No	Pes cavus	Mild facial weakness, moderate dysphonia, seizures	Yes	Splice site c.1479+1G>A
Current report Family III 2 siblings	20 years/M	48	No	Pes cavus, mild scoliosis, hammer toes, foot drop, claw hands	Dysphonia	Yes	c.1090C>T; p.Arg364Ter
	18 years/F	60	No	Pes cavus, severe scoliosis, hammer toes, foot drop, claw hands	Facial weakness	No data	c.1090C>T; p.Arg364Ter
Current report Family IV 1 sibling	5 years/F	First months of life	No	Pes cavus		Yes	c.883C>T; p.Arg295Ter

F, female; M, male; PNP, Polyneuropathy; EMG, Electromyography.

A PubMed/Medline search (1966–2019) of “Charcot-Marie-Tooth disease AND MTMR2 mutation” and “Charcot-Marie-Tooth disease type 4B1.” Cohort of Pareyson et al. was not included due to overlapping of the reviewed cases and the absence of a clear phenotypic assignment of the novel cases. MTMR2 reference sequence (NM_016156).