Diseases of the nervous system
Diseases of myoneural junction and muscle
Autosomal recessive
2q31.2
This is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 608807.1 | Lebanon | Hypotonia; Motor delay; Lactic acidosi... Hypotonia; Motor delay; Lactic acidosis; Myopathy; Congenital onset; Decreased activity of mitochondrial respiratory chain  | NM_001267550.2:c.36040A>T, NM_001267550.2:c.68529del | Heterozygous | Autosomal, Recessive | Nair et al. 2018 |