Novel FHL1 mutations in fatal and benign reducing body myopathy.
Shalaby
S
S
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan.
Hayashi
Y K
YK
Nonaka
I
I
Noguchi
S
S
Nishino
I
I
D005260:Female; D017353:Gene Deletion; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D060588:LIM Domain Proteins; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality; D020125:Mutation, Missense; D017434:Protein Structure, Tertiary / Q000235:genetics
C101149:FHL1 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D060588:LIM Domain Proteins; D009124:Muscle Proteins