Author/Authors :
ERDOGMUS İNCE, Nilufer SB Ankara Diskapi YBEA Hastanesi - Noroloji, Turkey , OZTEKİN, M. Fevzi SB Ankara Diskapi YBEA Hastanesi - Noroloji, Turkey , OZTEKİN, Nese SB Ankara Diskapi YBEA Hastanesi - Noroloji, Turkey
Title Of Article :
LATE ONSET MYOPATHY (DYSFERLINOPATHY): A FAMILY PRESENTATION
Abstract :
Dysferlin is a membrane protein. Mutations in the dysferlin gene lead to Miyoshi myopathy, limb-girdle muscular dystrophy 2B, distal anterior compartment myopathy, and scapuloperoneal muscular dystrophy. Herein we describe the findings from a family with late onset myopathy who were diagnosed with dysferlinopathy.
NaturalLanguageKeyword :
Dysferlin , Dysferlinopathy , Distal Myopathy , Limb , Girdle Muscular Dystrophy , Miyoshi Myopathy.
JournalTitle :
Fırat Medical Journal
