ArticleInternal medicine (Tokyo, Japan)2017
Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation.
Article in Internal medicine (Tokyo, Japan), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 6 citations in OpenAlex.
- Mitochondrial abnormalities contribute to muscle weakness in a Dnajb6 deficient zebrafish model.Human molecular genetics · 2024Article
- Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.International journal of molecular sciences · 2020Review
- Genotypic and Phenotypic Heterogeneity of LGMD1D due toYonsei medical journal · 2018Article
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11 authors at 2 institutions in 1 country.
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Abstract
A 41-year-old man presented with gradually progressing proximal-dominant lower limb atrophy and weakness. His brother, mother and maternal aunt had the same symptoms. A physical examination and muscle imaging (CT and ultrasound) showed selective muscle involvement of the bilateral paraspinal, gluteus and posterior groups of lower limb muscles. Based on the characteristic muscle involvement pattern, the clinical findings and the muscle biopsy results, we made a straightforward diagnosis of limb-girdle muscular dystrophy (LGMD) due to a DNAJB6 Phe93Leu mutation based on a targeted gene analysis. In the differential diagnosis of adult-onset LGMD syndromes, in addition to investigating the family history, it is important to perform an extensive physical examination to determine the pattern of muscle involvement, and to perform a muscle biopsy. Our case suggests that posterior-dominant lower limb muscle impairment with gluteus and truncal muscle involvement and the detection of rimmed vacuoles on a muscle biopsy could be clues for the diagnosis of LGMD due to DNAJB6 mutations.
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