Diseases of the nervous system
Diseases of myoneural junction and muscle
Autosomal recessive
22q13.33
Megaconial-type congenital muscular dystrophy (MDCMC) is an autosomal recessive disorder characterized by early-onset muscle wasting and impaired intellectual development. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 602541.1 | Saudi Arabia | Unknown | Failure to thrive; Motor delay; Hypotoni... Failure to thrive; Motor delay; Hypotonia; Muscle weakness  | NM_005198.5:c.927+1G>A | Homozygous | Autosomal, Recessive | Monies et al. 2017 |