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注意：仅列出部分参考文献，下载原文获取全部文献信息。Congenital fiber type disproportion myopathy caused by LMNA mutations
Sachiko Kajino et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2014)
Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy
M. P. Menezes et al.
NEUROLOGY (2012)
Mutations in TPM2 and congenital fibre type disproportion
Nigel F. Clarke et al.
NEUROMUSCULAR DISORDERS (2012)
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy
Saida Ortolano et al.
NEUROMUSCULAR DISORDERS (2011)
Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations
L. Subramanyam et al.
CLINICAL GENETICS (2010)
An integrated approach to the diagnosis of muscle disorders: what is the role of muscle imaging?
Eugenio Mercuri
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2010)
Recessive Mutations in RYR1 Are a Common Cause of Congenital Fiber Type Disproportion
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HUMAN MUTATION (2010)
Progeroid Syndrome With Scleroderma-Like Skin Changes Associated With Homozygous R435C LMNA Mutation
Agnieszka Madej-Pilarczyk et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Association of homozygous LMNA mutation R471C with new phenotype:: Mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy
Birgit Zirn et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Mutations in TPM3 are a common cause of congenital fiber type disproportion
Nigel F. Clarke et al.
ANNALS OF NEUROLOGY (2008)
Predominant fiber atrophy and fiber type disproportion in early Ullrich disease
Joachim Schessl et al.
MUSCLE & NERVE (2008)
High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics
J. Peter van Tintelen et al.
AMERICAN HEART JOURNAL (2007)
A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia
C Goizet et al.
JOURNAL OF MEDICAL GENETICS (2004)
Actin mutations are one cause of congenital fibre type disproportion
NG Laing et al.
ANNALS OF NEUROLOGY (2004)
Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene - From congenital onset with severe phenotype to milder classic Emery-Dreifuss variant
E Mercuri et al.
ARCHIVES OF NEUROLOGY (2004)
LMNA mutations in atypical Werner's syndrome
LS Chen et al.
LANCET (2003)
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