Table 1.

Candidate gene list for distal SMA.

#	Gene	Description	Disease (SMA)	Inheritance	OMIM	Other diseases
1	HSPB1	heat shock 27kDa protein 1	distal hereditary motor neuropathy, type IIB	AD, AR	602195	Charcot-Marie-Tooth disease, axonal, type 2F
2	HSPB3	heat shock 27kDa protein 3	Neuronopathy, distal hereditary motor, type IIC	AD	604624
3	HSPB8	heat shock 22kDa protein 8	distal hereditary motor neuropathy type IIA	AD	608014	Charcot-Marie-Tooth disease, axonal, type 2L
4	BSCL2	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	distal hereditary motor neuropathy, type V	AD	606158	Lipodystrophy, congenital generalized, type 2; Silver spastic paraplegia syndrome
5	GARS	glycyl-tRNA synthetase	distal hereditary motor neuropathy, type V	AD	600287	Charcot-Marie-Tooth disease, type 2D
7	AARS	alanyl-tRNA synthetase	distal hereditary motor neuropathy	AD	601065	Charcot-Marie-Tooth disease, axonal, type 2N
8	DYNC1H1	dynein, cytoplasmic 1, heavy chain 1	Spinal muscular atrophy, lower extremity-predominant	AD	600112	Charcot-Marie-Tooth disease, axonal, type 20; Mental retardation, autosomal dominant 13
9	REEP1	receptor accessory protein 1	Neuronopathy, distal hereditary motor, type VB	AD	609139	Spastic paraplegia 31, autosomal dominant
10	IGHMBP2	immunoglobulin mu binding protein 2	Neuronopathy, distal hereditary motor, type VI (also DSMA1)	AR	600502
11	PLEKHG5	pleckstrin homology domain containing, family G, member 5	Spinal muscular atrophy, distal, 4 (DSMA4)	AR	611101
12	DCTN1	dynactin 1	Neuropathy, distal hereditary motor, type VIIB	AD	601143	Perry syndrome; susceptibility to amyotrophic lateral sclerosis (ALS)
13	TRPV4	transient receptor potential cation channel, subfamily V, member 4	Scapuloperoneal spinal muscular atrophy; Spinal muscular atrophy, distal, congenital nonprogressive	AD	605427	Brachyolmia type 3; Digital arthropathy-brachydactyly, familial; Hereditary motor and sensory neuropathy, type IIc; Metatropic dysplasia; Parastremmatic dwarfism; Spondyloepiphyseal dysplasia, Maroteaux type; Spondylometaphyseal dysplasia, Kozlowski type
14	ATP7A	ATPase, Cu++ transporting, alpha polypeptide	Spinal muscular atrophy, distal, 3 (DSMA4)	X-linked	300011	Menkes disease; Occipital horn syndrome
15	DNAJB2/ HSJ1	DnaJ (Hsp40) homolog, subfamily B, member 2	Spinal muscular atrophy, distal 5 (DSMA5)	AR	604139
16	UBA1/UB E1	ubiquitin-like modifier activating enzyme 1	X-linked infantile spinal muscular atrophy (XLSMA)	X-linked	314370
17	VAPB	VAMP (vesicle-associated membrane protein)-associated protein B and C	Spinal muscular atrophy, late-onset, Finkel type	AD	605704	Amyotrophic lateral sclerosis 8
18	SLC5A7	solute carrier family 5 (choline transporter), member 7	Neuronopathy, distal hereditary motor, type VIIA	AD	608761
19	?	linked to chromosome 9p21.1-p12	Neuropathy, distal hereditary motor, Jerash type (DSMA2)	AR	605726
20	?	linked to chromosome 11q13.3	Spinal muscular atrophy, chronic distal (DSMA3)	AR	607088