(Q66084922)
English
X-linked congenital myopathy with fiber-type disproportion
A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has material basis in mutation in the chromosome region Xq13.1-q22.1.
- CFTDX
Statements
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Identifiers
1 reference
1 reference