New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families
about
Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interactionEthnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle EastCongenital muscular dystrophies: a brief reviewBiochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.Zebrafish models for human FKRP muscular dystrophiesThe dystroglycanopathies: the new disorders of O-linked glycosylationMouse large can modify complex N- and mucin O-glycans on alpha-dystroglycan to induce laminin binding.Post-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected]Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency.Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage.Congenital protein hypoglycosylation diseases.Primary myopathies and the heart.Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives.Consensus statement on standard of care for congenital muscular dystrophies.Epidemiology of muscular dystrophies in the Mediterranean area.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.Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?Rapidly progressive heart failure requiring transplantation in muscular dystrophy: a need for frequent screening.FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies.Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I.Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.
P2860
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P2860
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families
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2003 nî lūn-bûn
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2003年の論文
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2003年学术文章
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2003年学术文章
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name
New FKRP mutations causing con ...... mutation in Tunisian families
@ast
New FKRP mutations causing con ...... mutation in Tunisian families
@en
type
label
New FKRP mutations causing con ...... mutation in Tunisian families
@ast
New FKRP mutations causing con ...... mutation in Tunisian families
@en
prefLabel
New FKRP mutations causing con ...... mutation in Tunisian families
@ast
New FKRP mutations causing con ...... mutation in Tunisian families
@en
P2093
P2860
P1433
P1476
New FKRP mutations causing con ...... mutation in Tunisian families
@en
P2093
Brigitte Estournet
Chahnez Triki
Faiza Fakhfakh
Hammadi Ayadi
Mériem Méziou
Nacim Louhichi
Norma B Romero
Pascale Guicheney
Pascale Richard
Samira Makri
P2860
P2888
P356
10.1007/S10048-003-0165-9
P577
2003-12-02T00:00:00Z