Diseases of the nervous system
Diseases of myoneural junction and muscle
Autosomal recessive
15q15.1
Autosomal recessive limb-girdle muscular dystrophy-1 affects primarily the proximal muscles, resulting in difficulty walking. The age at onset varies, but most patients show onset in childhood, and the disorder is progressive. Other features may include scapular winging, calf pseudohypertrophy, and contractures. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 253600.1 | Lebanon | Unknown | No | Muscular dystrophy Muscular dystrophy  | NM_000070.3:c.956C>T, NM_000070.3:c.946-1_948del | Heterozygous | Autosomal, Recessive | Jalkh et al. 2019 | ||
| 253600.2.1 | Lebanon | Female | Yes | No | Elevated circulating creatine kinase con... Elevated circulating creatine kinase concentration; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy | NM_000070.3:c.956C>T, NM_000070.2:c.257C>T | Heterozygous | Autosomal, Recessive | Richard et al. 1997 | |
| 253600.2.2 | Lebanon | Male | Yes | No | Elevated circulating creatine kinase con... Elevated circulating creatine kinase concentration; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy | NM_000070.3:c.956C>T, NM_000070.2:c.257C>T | Heterozygous | Autosomal, Recessive | Richard et al. 1997 | Brother of patient 2... |
| 253600.2.3 | Lebanon | Male | Yes | Yes | Elevated circulating creatine kinase con... Elevated circulating creatine kinase concentration; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy; Calf muscle hypertrophy | NM_000070.2:c.257C>T | Homozygous | Autosomal, Recessive | Richard et al. 1997 | cousin of patient 25... |
| 253600.2.4 | Lebanon | Male | Yes | Yes | Elevated circulating creatine kinase con... Elevated circulating creatine kinase concentration; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy | NM_000070.2:c.257C>T | Homozygous | Autosomal, Recessive | Richard et al. 1997 | cousin of patient 25... |
| 253600.2.5 | Lebanon | Male | Yes | No | Elevated circulating creatine kinase con... Elevated circulating creatine kinase concentration; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy | NM_000070.3:c.956C>T, NM_000070.2:c.257C>T | Heterozygous | Autosomal, Recessive | Richard et al. 1997 | Second cousin of pat... |
| 253600.3.1 | Lebanon | Male | Yes | Yes | Limb-girdle muscular dystrophy; Elevate... Limb-girdle muscular dystrophy; Elevated circulating creatine kinase concentration | NM_000070.2:c.717del | Homozygous | Autosomal, Recessive | Richard et al. 1997 | |
| 253600.3.2 | Lebanon | Male | Yes | Yes | Limb-girdle muscular dystrophy; Elevate... Limb-girdle muscular dystrophy; Elevated circulating creatine kinase concentration | NM_000070.2:c.717del | Homozygous | Autosomal, Recessive | Richard et al. 1997 | Brother of patient 2... |
| 253600.3.3 | Lebanon | Male | Yes | Yes | Limb-girdle muscular dystrophy; Elevate... Limb-girdle muscular dystrophy; Elevated circulating creatine kinase concentration | NM_000070.2:c.717del | Homozygous | Autosomal, Recessive | Richard et al. 1997 | Nephew of patient 25... |
| 253600.3.4 | Lebanon | Female | Yes | Yes | Limb-girdle muscular dystrophy; Elevate... Limb-girdle muscular dystrophy; Elevated circulating creatine kinase concentration | NM_000070.2:c.717del | Homozygous | Autosomal, Recessive | Richard et al. 1997 | Niece of patient 253... |