Absence of β-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy

Neuromuscular Disorders

Volumn 19, Issue 2, 2009, Pages 118-123

  Monnier, Nicole ^a,b,c   Lunardi, Joel ^a,b,c   Marty, Isabelle ^b,c   Mezin, Paulette ^a   Labarre Vila, Annick ^a,b,c   Dieterich, Klaus ^a   Jouk, Pierre Simon ^a  

^a GRENOBLE UNIVERSITY HOSPITAL   (France)

^b INSERM   (France)

^c UNIV GRENOBLE ALPES   (France)

Author keywords

Escobar variant; Nemaline myopathy; Non lethal multiple pterygium syndrome; TPM2 gene

Indexed keywords

BETA TROPOMYOSIN; ISOPROTEIN; TROPOMYOSIN; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL FEATURE; DISEASE ASSOCIATION; ESCOBAR SYNDROME; GENE EXPRESSION; GENE MUTATION; HOMOZYGOSITY; HUMAN; MUSCULOSKELETAL SYSTEM MALFORMATION; NEMALINE MYOPATHY; NUCLEOTIDE SEQUENCE; NULL ALLELE; PRENATAL PERIOD; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SKELETAL MUSCLE;

ADULT; ALGERIA; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HUMANS; INHERITANCE PATTERNS; MALE; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, NEMALINE; PEDIGREE; PHENOTYPE; SYNDROME; TROPOMYOSIN;

EID: 59149084539     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2008.11.009     Document Type: Article

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