title: A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties.
abstract: Limb girdle muscular dystrophy type 2L (LGMD2L) is an adult-onset slowly progressive muscular dystrophy associated with anoctamin 5 (ANO5) gene mutation, mainly reported from Northern and Central Europe. We report the case of a Japanese male patient with a novel homozygous mutation of c.2394dup, p.Arg799Thrfs in ANO5 gene, the second patient in the Asian population. He had had marked elevation of creatine kinase (CK) level for more than 10 years with minimal muscular symptoms consisting of muscle stiffness and occasional cramps, preceding the onset of proximal limb weakness. Calf hypertrophy and selective fatty replacement of the adductor magnus and gastrocnemius muscles were prominent clinical and muscle imaging features. This case suggests that LGMD2L may affect a broader population than has been previously thought, physicians should consider the possibility of ANO5 mutation even in patients showing elevated CK level with no apparent muscle weakness but muscle stiffness or cramps.
authors.affiliation: Department of Neurology, National Hospital Organization Higashisaitama Hospital, Saitama, Japan; Department of Neurology, Anti-Aging Medicine, National Defense Medical College, Saitama, Japan.
authors.forename: Masato
authors.initials: M
authors.lastname: Kadoya
authors.affiliation: Department of Neurology, National Hospital Organization Higashisaitama Hospital, Saitama, Japan. Electronic address: ogataneu@nhs.hosp.go.jp.
authors.forename: Katsuhisa
authors.initials: K
authors.lastname: Ogata
authors.affiliation: Department of Neurology, National Hospital Organization Higashisaitama Hospital, Saitama, Japan.
authors.forename: Mikiya
authors.initials: M
authors.lastname: Suzuki
authors.affiliation: Department of Neurology, National Hospital Organization Higashisaitama Hospital, Saitama, Japan.
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Honma
authors.affiliation: Department of Neurology, National Hospital Organization Higashisaitama Hospital, Saitama, Japan.
authors.forename: Kazunari
authors.initials: K
authors.lastname: Momma
authors.affiliation: Department of Neurology, National Hospital Organization Higashisaitama Hospital, Saitama, Japan.
authors.forename: Kana
authors.initials: K
authors.lastname: Yatabe
authors.affiliation: Department of Neurology, National Hospital Organization Higashisaitama Hospital, Saitama, Japan.
authors.forename: Takuhisa
authors.initials: T
authors.lastname: Tamura
authors.affiliation: Department of Neurology, Anti-Aging Medicine, National Defense Medical College, Saitama, Japan.
authors.forename: Kenichi
authors.initials: K
authors.lastname: Kaida
authors.affiliation: Department of Clinical Development, Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Naomasa
authors.initials: N
authors.lastname: Miyata
authors.affiliation: Department of Clinical Development, Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.affiliation: Department of Neurology, National Hospital Organization Higashisaitama Hospital, Saitama, Japan; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Ikuya
authors.initials: I
authors.lastname: Nonaka
authors.affiliation: Department of Neurology, National Hospital Organization Higashisaitama Hospital, Saitama, Japan.
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Kawai
mesh_terms: D017668:Age of Onset; D000075368:Anoctamins / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000473:pathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009154:Mutation; D063806:Myalgia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology
chemical_list: C547813:ANO5 protein, human; D000075368:Anoctamins
keywords: Anoctamin 5; Calf hypertrophy; HyperCKemia; Limb girdle muscular dystrophy type 2L; Non-European population