Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.
about
Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the NervesLimb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).Limb-girdle muscular dystrophy subtypes: First-reported cohort from northeastern China.Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects.Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.The Clinical Outcome Study for dysferlinopathy: An international multicenter study.Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?Coupling of excitation to Ca2+ release is modulated by dysferlin.Progress and challenges in diagnosis of dysferlinopathy.Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C).Toward an objective measure of functional disability in dysferlinopathy.Physiology of respiratory disturbances in muscular dystrophies.Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation.Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy.Respiratory and cardiac function in japanese patients with dysferlinopathy.Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience.Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy
P2860
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P2860
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.
@ast
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.
@en
type
label
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.
@ast
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.
@en
prefLabel
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.
@ast
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.
@en
P2093
P2860
P356
P1476
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.
@en
P2093
Chikako Yaginuma
Eiichiro Mukai
Emi Abe-Kondo
Hidehiko Konno
Hiroshi Onodera
Hiroyasu Tanaka
Hitomi Sato
Hitomi Sugawara
Itaru Funakawa
Jun Shimizu
P2860
P304
P356
10.1136/JNNP-2011-301339
P407
P50
P577
2012-12-15T00:00:00Z