A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.
about
Candidate-gene testing for orphan limb-girdle muscular dystrophiesRecessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.A new distal myopathy with mutation in anoctamin 5.Novel diagnostic features of dysferlinopathies.Quadriceps myopathy caused by skeletal muscle-specific ablation of β(cyto)-actinCardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2IAutosomal recessive limb-girdle muscular dystrophies in the Czech RepublicNext generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutationsGenetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy.Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patientsThe Classification, Natural History and Treatment of the Limb Girdle Muscular DystrophiesCharacteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation.Clinical and genetic features of anoctaminopathy in Saudi Arabia.Novel mutations in the Anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L.Anoctamins/TMEM16 Proteins: Chloride Channels Flirting with Lipids and Extracellular Vesicles.Myopathy caused by anoctamin 5 mutations and necrotizing vasculitisDecreased Aerobic Capacity in ANO5-Muscular DystrophyFirst familial limb-girdle muscular dystrophy 2L in China: Clinical, imaging, pathological, and genetic features
P2860
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P2860
A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh
2006年學術文章
@zh-hant
name
A novel autosomal recessive li ...... eps atrophy maps to 11p13-p12.
@en
A novel autosomal recessive li ...... eps atrophy maps to 11p13-p12.
@nl
type
label
A novel autosomal recessive li ...... eps atrophy maps to 11p13-p12.
@en
A novel autosomal recessive li ...... eps atrophy maps to 11p13-p12.
@nl
prefLabel
A novel autosomal recessive li ...... eps atrophy maps to 11p13-p12.
@en
A novel autosomal recessive li ...... eps atrophy maps to 11p13-p12.
@nl
P2093
P356
P1433
P1476
A novel autosomal recessive li ...... eps atrophy maps to 11p13-p12.
@en
P2093
Robitaille Y
Thiffault I
Tétreault M
P304
P356
10.1093/BRAIN/AWL270
P407
P577
2006-09-28T00:00:00Z