肩甲腓骨型筋萎縮症
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English Journal
- TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature.
- Biasini F1, Portaro S2, Mazzeo A1, Vita G1, Fabrizi GM3, Taioli F3, Toscano A1, Rodolico C4.
- Neuromuscular disorders : NMD.Neuromuscul Disord.2016 Apr-May;26(4-5):312-5. doi: 10.1016/j.nmd.2016.02.010. Epub 2016 Feb 23.
- Scapuloperoneal spinal muscular atrophy (SPSMA) is a rare autosomal dominant disorder caused by heterozygous mutations in the transient receptor potential cation channel (TRPV4) gene, characterized by progressive scapuloperoneal atrophy and weakness. Additional features, such as vocal cord paralysis
- PMID 26948711
- [Davidenkow syndrome. A rare peripheral neuropathy].
- Halley Carvalho Pimentel L1, Campos Paiva AL, Esteves Veiga JC, Brasileiro de Aguiar G.
- Medicina.Medicina (B Aires).2016;76(1):33-5.
- A different and rare type of atrophy with a predominant pattern in scapulo-peroneal distribution was described by Davidenkow in 1939. The syndrome was characterized by some researchers as a variant of Charcot-Marie-Tooth disease, however Davidenkow noticed that clinical and laboratorial manifestatio
- PMID 26826991
- X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene.
- D'Arcy C1, Kanellakis V2, Forbes R3, Wilding B4, McGrath M4, Howell K5, Ryan M5, McLean C6.
- Journal of child neurology.J Child Neurol.2015 Aug;30(9):1211-7. doi: 10.1177/0883073814549807. Epub 2014 Sep 22.
- FHL1 gene mutations are associated with reducing body myopathy, X-linked myopathy with postural muscle atrophy, scapuloperoneal myopathy, Emery-Dreifuss muscular dystrophy, and isolated hypertrophic cardiomyopathy. We describe a boy with a family history consistent with X-linked distal myopathy/card
- PMID 25246303
Japanese Journal
- 心電図異常と失神発作を示した筋萎縮症の1例 : 第29回日本循環器学会九州地方会
Related Links
- Scapuloperoneal amyotrophy information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis. ... Scapuloperoneal amyotrophy: Introduction Scapuloperoneal ...
- Clinical Synopsis TEXT A number sign (#) is used with this entry because of evidence that scapuloperoneal spinal muscular atrophy (SPSMA) is caused by heterozygous mutation in the TRPV4 gene (605427) on chromosome ...
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- 英
- scapuloperoneal amyotrophy
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- 肩甲腓骨型筋症候群、ダヴィデンコフ症候群
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- 関
- Muscles, atrophy of