A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties

Highlights • We identified a novel homozygous mutation of c.2394dupA (p.Arg799fs) in ANO5 gene. • There are LGMD2L patients even of non-European ancestry, including Asian population. • Physicians should consider ANO5 mutation in patients with persistently high CK level.

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Veröffentlicht in:	Neuromuscular disorders : NMD 2017-05, Vol.27 (5), p.477-480
Hauptverfasser:	Kadoya, Masato, Ogata, Katsuhisa, Suzuki, Mikiya, Honma, Yutaka, Momma, Kazunari, Yatabe, Kana, Tamura, Takuhisa, Kaida, Kenichi, Miyata, Naomasa, Nishino, Ichizo, Nonaka, Ikuya, Kawai, Mitsuru
Format:	Artikel
Sprache:	eng
Schlagworte:	Age of Onset Anoctamin 5 Anoctamins - genetics Asian Continental Ancestry Group - genetics Calf hypertrophy Homozygote Humans HyperCKemia Japan Limb girdle muscular dystrophy type 2L Male Middle Aged Muscle Weakness - diagnostic imaging Muscle Weakness - genetics Muscle Weakness - pathology Muscle Weakness - physiopathology Muscle, Skeletal - pathology Muscular Dystrophies, Limb-Girdle - diagnostic imaging Muscular Dystrophies, Limb-Girdle - genetics Muscular Dystrophies, Limb-Girdle - pathology Muscular Dystrophies, Limb-Girdle - physiopathology Mutation Myalgia - diagnostic imaging Myalgia - genetics Myalgia - pathology Myalgia - physiopathology Neurology Non-European population
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Beschreibung
Zusammenfassung:	Highlights • We identified a novel homozygous mutation of c.2394dupA (p.Arg799fs) in ANO5 gene. • There are LGMD2L patients even of non-European ancestry, including Asian population. • Physicians should consider ANO5 mutation in patients with persistently high CK level.
ISSN:	0960-8966 1873-2364
DOI:	10.1016/j.nmd.2017.01.012