Results 1 -
6
of
6
for
Severe congenital nemaline myopathy
- ... MYOPATHY 2; NEM2 NEMALINE MYOPATHY 5A, AUTOSOMAL RECESSIVE, SEVERE INFANTILE; NEM5A NEMALINE MYOPATHY 7; NEM7 NEMALINE MYOPATHY 6; NEM6 CONGENITAL MYOPATHY 4B, AUTOSOMAL RECESSIVE; CMYO4B CONGENITAL MYOPATHY 23; ...
- ... Navarro C, Nishino I, Lochmuller H, Laing NG. Severe nemaline myopathy caused by mutations of the stop codon of ...
- ... their family. Actin filament aggregate myopathy Actin myopathy Congenital myopathy with excess of thin filaments Nemaline myopathy 3 Genetic Testing Registry: Actin accumulation myopathy ...
- ... disorder in their family. Intranuclear nemaline rod myopathy Nemaline myopathy with exclusively intranuclear rods Genetic Testing Registry: Actin accumulation myopathy National Organization for Rare Disorders (NORD) CONGENITAL MYOPATHY 2A, TYPICAL, AUTOSOMAL DOMINANT; CMYO2A PubMed Feng ...
- Cap myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with cap myopathy have muscle ...
- ... National Urea Cycle Disorders Foundation NBIA Disorders Association Nemaline Myopathy Support Group Nerve Tumors UK Neurofibromatosis Midwest NF ...