chromosome	gene symbol	phenotype
9p13	TPM2 tropomyosin 2 (beta)	Arthrogryposis, distal, type 1A -DA1A arthrogryposis, distal, type 2B -DA2B Nemaline myopathy 4 -NEM4 Cap myopathy, TPM2-related, included -
9p13-p12	VCP valosin-containing protein	Distal myopathy with VCP defect -IBMPFD Inclusion body myopathy with early-onset paget disease and frontotemporal dement -IBMPFD Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia -ALS14
9p13.3	GNE UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase	Inclusion body myopathy, autosomal recessive -IBM2 Nonaka myopathy -NM
9p13.3	APTX aprataxin	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia -EAOH
9p21	?	spinal muscular atrophy, distal, autosomal recessive, 2 -DSMA2
9p21.2-p22.3	KLHL9 kelch-like homologue 9	Early onset distal myopathy with KLHL9 mutations -
9p23-p11	?	friedreich ataxia 2 -FRDA2
9q11.1	MURC muscle-related coiled-coil protein	Dilated cardiomyopathy with MURC defect -
9q13	?	Cardiomyopathy, familial dilated, 1 -CMD1B
9q13-q21.1	FXN frataxin	Friedreich ataxia -FRDA Friedreich ataxia with retained reflexes -FARR
9q22.2	SPTLC1 serine palmitoyltransferase subunit 1	Neuropathy, hereditary sensory, type 1 -HSN1 Neuropathy, hereditary sensory and autonomic, type 1 -HSAN1
9q31-q33	IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	Neuropathy, hereditary sensory and autonomic, type III -HSAN3 Familial dysautonomia (Riley-Day syndrome) -
9q31-q33	FKTN fukutin	Walker-warburg syndrome -WWS fukuyama congenital muscular dystrophy -FCMD Limb-girdle, muscular dystrophy, type 2m -LGMD2M
9q31.3-q32	MUSK skeletal muscle receptor tyrosine kinase	Congenital myasthenic syndrome with MuSK deficiency -CMS1B
9q33-q34	?	Spastic paraplegia 19 -SPG19
9q33.2	TRIM32 Tripartite motif-containing 32	Sarcotubular myopathy - Muscular dystrophy, limb-girdle, type 2H -LGMD2H
9q34	TOR1A torsin A	Torsion dystonia, early onset -EOTD
9q34.1	POMT1 Protein-O-mannosyltransferase 1	Walker-Warburg syndrome -WWS Muscular dystrophy, Limb-Girdle, type 2K -LGMD2K
9q34.11	GLE1 GLE1 RNA export mediator homolog (yeast)	Lethal congenital contracture syndrome 1 -LCCS1
9q34.13	SETX senataxin	Neuropathy, distal hereditary motor, with pyramidal features -ALS4 ATAXIA-oculomotor apraxia 2 -AOA2 Spinocerebellar ataxia, autosomal recessive 1 -SCAR1