Radiological findings in siblings with dysferlin mutation with diverse phenotype
Author:
Funder
Intramural Research Grant
National Center of Neurology and Psychiatry of Japan
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
Reference12 articles.
1. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy;Liu;Nat. Genet.,1998
2. Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy;Aoki;Neurology,2001
3. Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype;Illa;Ann. Neurol.,2001
4. Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials;Diaz-Manera;J. Neurol. Neurosurg. Psychiatry,2018
5. Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT;Okahashi;Intern. Med.,2008
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