Myopathy of distal lower limbs: the clinical variant of Miyoshi
نویسندگان
چکیده
منابع مشابه
Myopathy of distal lower limbs: the clinical variant of Miyoshi.
Miyoshi distal dystrophy is a rare myopathy characterized by an autosomal recessive pattern of inheritance and it is prevalent in Japan. Onset of disease is in early adult life with weakness and atrophy of the leg muscles. Recently gene linkage to chromosome 2p12-14 has been established. We report three sisters, born of consanguineous parents. All of them noticed weakness and atrophy of leg mus...
متن کاملCalf-head sign in Miyoshi myopathy.
OBJECTIVE To observe whether patients with Miyoshi-type dysferlinopathy demonstrate any distinct appearance in the back of the shoulders and upper back in a specific posture. DESIGN Case series. SETTING Neurology outpatient clinic of a north Indian tertiary care medical institute. PATIENTS Fifteen patients from 9 families (10 males and 5 females; age range, 16-42 years) who had Miyoshi my...
متن کاملPhenotypic features and genetic findings in 2 chinese families with Miyoshi distal myopathy.
BACKGROUND Miyoshi distal myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B) were found to map to the same mutant gene encoding for dysferlin on chromosome 2p13. Most reported cases were large inbred kindreds whose members demonstrated both MM and LGMD2B phenotypes. OBJECTIVE To investigate the clinical, neurophysiological, histopathological, and genetic features in 4 patients ...
متن کاملIsolated distal myopathy of the upper limbs associated with mitochondrial DNA depletion and polymerase gamma mutations.
OBJECTIVE To describe an unusual clinical phenotype in an adult harboring 2 compound heterozygous polymerase γ (POLG) mutations. DESIGN Case report. SETTING University-based outpatient neurology clinic and pathology and genetics laboratory. PATIENT A 27-year-old man presenting with isolated distal myopathy of the upper extremities in the absence of sensory disturbances. RESULTS Histoche...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Arquivos de Neuro-Psiquiatria
سال: 2003
ISSN: 0004-282X
DOI: 10.1590/s0004-282x2003000600011