Calf heads on a trophy sign: Miyoshi myopathy
نویسندگان
چکیده
منابع مشابه
Calf-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 کاملLate-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report
INTRODUCTION Miyoshi myopathy, a type of distal myopathy with predominant involvement of the posterior calf muscles, has been assigned to mutations in the dysferlin gene. However, many of the late-onset limb-girdle and distal myopathies that resemble dysferlinopathy or Miyoshi myopathy remain unclassified, even after extensive immunohistological and genetic analysis. CASE PRESENTATION We repo...
متن کاملMyopathy 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 کاملDiamond on quadriceps: a frequent sign in dysferlinopathy.
Patients with dysferlinopathy (11 limb girdle muscular dystrophy [LGMD]-2B and 16 Miyoshi myopathy) were asked to stand with knees slightly bent so that the quadriceps muscles were in moderate action. The anterolateral aspect of thighs was observed for any abnormal bulge. Nineteen patients (7 LGMD-2B and 12 Miyoshi myopathy) showed asymmetric diamond shaped bulges with wasting of muscles above ...
متن کاملPatients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.
Two autosomal recessive muscle diseases, limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM), are caused by mutations in the dysferlin gene. These mutations result in poor ability to repair cell membrane damage, which is suggested to be the cause for this disease. However, many patients who share clinical features with MM-type muscular dystrophy do not carry mutations in d...
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ژورنال
عنوان ژورنال: Journal of Neurosciences in Rural Practice
سال: 2015
ISSN: 0976-3147,0976-3155
DOI: 10.4103/0976-3147.158798