A novel dysferlin gene mutation in a Filipino male with Miyoshi myopathy

•Only one local case of Miyoshi myopathy was reported to date.•Our case is a young Filipino with distal myopathy with a novel mutation in DYSF.•To design future clinical trials for treatment, reporting of this case is important.

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Bibliographische Detailangaben
Veröffentlicht in:	Clinical neurology and neurosurgery 2021-02, Vol.201, p.106433-106433, Article 106433
Hauptverfasser:	Adiao, Karen Joy, Prado, Mario B., Astejada, Mina
Format:	Artikel
Sprache:	eng
Schlagworte:	Atrophy Biopsy Creatine Creatine kinase Developing countries Editing Genes Laboratories LDCs Magnetic resonance imaging Miyoshi myopathy Muscles Mutation Myopathy Nervous system Neurology Point mutation Proteins Sequence analysis Thorax Transcription Writing Zygosity
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Beschreibung
Zusammenfassung:	•Only one local case of Miyoshi myopathy was reported to date.•Our case is a young Filipino with distal myopathy with a novel mutation in DYSF.•To design future clinical trials for treatment, reporting of this case is important.
ISSN:	0303-8467 1872-6968
DOI:	10.1016/j.clineuro.2020.106433