Abstract |
Limb girdle muscular dystrophy type 2B ( LGMD2B) and Miyoshi Myopathy are caused by mutations in the dysferlin gene. The phenotype of these allelic disease variants can vary considerably. We report on an adolescent female with a severe and rapidly progressing clinical course of LGMD2B which has been suggested by the muscle histopathology and Western blot and proven by mutation analysis in the Dysferlin gene. We detected a novel compound heterozygous mutation of which one affects the extracellular part of the protein. This is the first report on a mutation in this region of dysferlin and might explain the unusual phenotype of the patient.
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Authors | Alexander Diers, Miriam Carl, Gisela Stoltenburg-Didinger, Matthias Vorgerd, Simone Spuler |
Journal | Neuromuscular disorders : NMD
(Neuromuscul Disord)
Vol. 17
Issue 2
Pg. 157-62
(Feb 2007)
ISSN: 0960-8966 [Print] England |
PMID | 17129727
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Codon, Nonsense
- DYSF protein, human
- Dysferlin
- Membrane Proteins
- Muscle Proteins
- DNA
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Topics |
- Adolescent
- Blotting, Western
- Codon, Nonsense
(physiology)
- DNA
(biosynthesis, genetics)
- Dysferlin
- Electrophoresis, Polyacrylamide Gel
- Female
- Heterozygote
- Humans
- Hypertrophy
- Immunohistochemistry
- Leg
(pathology)
- Membrane Proteins
(genetics)
- Muscle Fibers, Skeletal
(pathology, ultrastructure)
- Muscle Proteins
(genetics)
- Muscle, Skeletal
(pathology)
- Muscular Dystrophies, Limb-Girdle
(genetics, pathology)
- Phenotype
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