The expanding phenotype of laminin α2 chain (merosin) abnormalities : case series and review

Author

JONES, Kristi J^{1 2} ; MORGAN, Graeme³ ; JOHNSTON, Heather⁴ ; TOBIAS, Vivienne⁵ ; OUVRIER, Robert A⁶ ; WILKINSON, Ian⁷ ; NORTH, Kathryn N^{1 2}
[1] Institute for Neuromuscular Research, The Children's Hospital at Westmead, PO Box 3515, Parramatta, Sydney, NSW 2124, Australia
[2] Department of Paediatrics and Child Health, University of Sydney, Australia
[3] Department of Medical Genetics, Sydney Children's Hospital, Randwick, Australia
[4] Department of Neurology, Sydney Children's Hospital, Randwick, Australia
[5] Division of Paediatric Anatomical Pathology, SEALS, Sydney, Australia
[6] Institute for Neuromuscular Research, The Children's Hospital at Westmead, Sydney, Australia
[7] Department of Paediatrics, John Hunter Hospital, Newcastle, Australia

Source

Journal of medical genetics. 2001, Vol 38, Num 10, pp 649-657 ; ref : 67 ref

CODEN

JMDGAE

ISSN

0022-2593

Scientific domain

Genetics

Publisher

BMJ, London

Publication country

United Kingdom

Document type

Article

Language

English

Keyword (fr)

Arriération mentale Article synthèse Association Asymptomatique Coeur Congénital Creatine kinase Dystrophie musculaire progressive ceintures Dystrophie musculaire Déficit Epilepsie Etude cas Fréquence Grave Homme Imagerie RMN Laminine Migration Muscle Mutation Phénotype Progressif Revue bibliographique Substance blanche EC 2.7.3.2 Déficience intellectuelle Encéphale pathologie Enzyme Imagerie médicale Maladie héréditaire Neuromusculaire pathologie Système nerveux central pathologie Système nerveux pathologie Transferases Trouble développement

Keyword (en)

Mental retardation Review Association Asymptomatic Heart Congenital Creatine kinase Limb girdle muscular dystrophy Muscular dystrophy Deficiency Epilepsy Case study Frequency Severe Human Nuclear magnetic resonance imaging Laminin Migration Muscle Mutation Phenotype Progressive Bibliographic review White matter EC 2.7.3.2 Intellectual deficiency Cerebral disorder Enzyme Medical imagery Genetic disease Neuromuscular diseases Central nervous system disease Nervous system diseases Transferases Developmental disorder

Keyword (es)

Retraso mental Artículo síntesis Asociación Asintomático Corazón Congénito Creatine kinase Distrofia muscular progresiva cinturones Distrofia muscular Déficiencia Epilepsia Estudio caso Frecuencia Grave Hombre Imaginería RMN Laminina Migración Músculo Mutación Fenotipo Progresivo Revista bibliográfica Substancia blanca Deficiencia intelectual Encéfalo patología Enzima Imaginería médica Enfermedad hereditaria Neuromuscular patología Sistema nervosio central patología Sistema nervioso patología Transferases Trastorno desarrollo

Classification

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17H Diseases of striated muscles. Neuromuscular diseases

Discipline

Neurology

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

14148016

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS