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
|