Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency.
about
Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the NervesGenetic defects in dolichol metabolism.ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy casesProgressive Dystrophic Pathology in Diaphragm and Impairment of Cardiac Function in FKRP P448L Mutant Mice.Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.Prospect of gene therapy for cardiomyopathy in hereditary muscular dystrophy.Vaccination in patients with disorders of the muscle and neuromuscular junction.The Growing Family of Limb-Girdle Muscular Dystrophies: Old and Newly Identified Members.Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations.B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.Cardiac involvement in the muscular dystrophies.Skeletal, cardiac, and respiratory muscle function and histopathology in the P448Lneo- mouse model of FKRP-deficient muscular dystrophy.
P2860
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P2860
Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
Respiratory and cardiac functi ...... alpha dystroglycan deficiency.
@ast
Respiratory and cardiac functi ...... alpha dystroglycan deficiency.
@en
type
label
Respiratory and cardiac functi ...... alpha dystroglycan deficiency.
@ast
Respiratory and cardiac functi ...... alpha dystroglycan deficiency.
@en
prefLabel
Respiratory and cardiac functi ...... alpha dystroglycan deficiency.
@ast
Respiratory and cardiac functi ...... alpha dystroglycan deficiency.
@en
P2093
P2860
P50
P1476
Respiratory and cardiac functi ...... alpha dystroglycan deficiency.
@en
P2093
A Berardinelli
E Pegoraro
F M Santorelli
P2860
P304
P356
10.1016/J.NMD.2012.05.006
P577
2012-06-22T00:00:00Z