Chromosome number :

1
2
3
4
5
6
7
8
9
X

chromosome
gene symbol
phenotype
5p
?
Malignant hyperthermia susceptibility 6 -MHS6
5p13
SLC1A3
EAAT1 (excitatory amino acid transporter type 1)
episodic ataxia type 6 -EA6
5q13
SMN1
survival of motor neuron 1, telomeric
Spinal muscular atrophy 1 -SMA1
Spinal muscular atrophy 3 -SMA3
Kugelberg-Welander Syndrome -KWS
Spinal muscular atrophy 2 -SMA2
Spinal muscular atrophy 4 -SMA4
5q13
?
Kugelberg-Welander syndrome -KWS
5q31
?
Motor neuropathy, distal hereditary, with vocal cord paralysis -HMN7
5q31
MATR3
Myopathy, distal 2 -MPD2
5q31
SLC22A5
solute carrier family 22 member 5
Carnitine deficiency, systemic primary -CDSP
5q31
MYOT
myotilin
Muscular dystrophy, proximal, type 1A -LGMD1
Muscular dystrophy, Limb-Girdle, type 1A -LGMD1A
Myopathy myofibrillar -MFM
5q31
SIL1
SIL1 homolog, endoplasmic reticulum chaperone
Marinesco-Sjogren syndrome -MSS
5q31-5q32
PPP2R2B
protein phosphatase 2 regulatory subunit B, beta isoform
Spinocerebellar ataxia 12 -SCA12
5q32
SH3TC2
KIAA1985 protein
Charcot-Marie-Tooth neuropathy Type 4F -CMT4C
5q33-q34
SGCD
delta-sarcoglycan
Muscular dystrophy, limb-girdle, type 2F -LGMD2F
Cardiomyopathy, dilated, 1L -CMD1L
Cardiomyopathy, dilated, 1L -CMD1L