Atypical phenotype in two patients with LAMA2 mutations

Neuromuscular Disorders

Volumn 24, Issue 5, 2014, Pages 419-424

  Marques, Joana ^a   Duarte, Sofia T ^b,c   Costa, Sónia ^d   Jacinto, Sandra ^b,c   Oliveira, Jorge ^e   Oliveira, Márcia E ^e   Santos, Rosário ^e,f   Bronze da Rocha, Elsa ^f   Silvestre, Ana Rita ^g   Calado, Eulália ^c   Evangelista, Teresinha ^b,g  

^a INSTITUTO PORTUGUÊS DE ONCOLOGIA DE LISBOA FRANCISCO GENTIL   (Portugal)

^b INSTITUTO DE MEDICINA MOLECULAR   (Portugal)

^c Universidade de Lisboa   (Portugal)

^d Vila Franca de Xira Hospital and Internal Medicine Department of the CUF Torres Vedras Hospital   (Portugal)

^e UP   (Portugal)

^f UNIVERSITY OF PORTO   (Portugal)

^g HOSPITAL DE SANTA MARIA   (Portugal)

Author keywords

Cardiomyopathy; Congenital muscular dystrophy 1A; Epilepsy; Laminin 2 chain; Merosin

Indexed keywords

ALPHA DYSTROGLYCAN; BETA DYSTROGLYCAN; LAMININ ALPHA2; PROLINE; THREONINE; LAMININ;

ADULT; ARTICLE; BRAIN RADIOGRAPHY; CASE REPORT; CHILD; DELTOID MUSCLE; DISEASE SEVERITY; DNA DETERMINATION; ELECTROMYOGRAPHY; EXON; GENE LOCATION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; LAMA2 GENE; LAMININ ALPHA2 DEFICIENCY; MACROCEPHALY; MALE; MIDDLE AGED; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE EXAMINATION; MUSCLE STRENGTH; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL CORTEX; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; BRAIN; CARDIOMYOPATHY; COGNITIVE DEFECT; DEFICIENCY; ELECTROENCEPHALOGRAPHY; EPILEPSY; GENETICS; LIMB GIRDLE MUSCULAR DYSTROPHY; MALLORY BODY; MUSCULAR DYSTROPHY; PATHOLOGY; PATHOPHYSIOLOGY; SCOLIOSIS; YOUNG ADULT;

BRAIN; CARDIOMYOPATHIES; COGNITION DISORDERS; ELECTROENCEPHALOGRAPHY; EPILEPSY; HUMANS; LAMININ; MAGNETIC RESONANCE IMAGING; MALE; MALLORY BODIES; MIDDLE AGED; MUSCULAR DYSTROPHIES; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION, MISSENSE; PHENOTYPE; SCOLIOSIS; YOUNG ADULT;

EID: 84898870163     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.01.004     Document Type: Article

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