Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis

Clinical Genetics

Volumn 89, Issue 1, 2016, Pages 93-98

  Longo, G ^a   Russo, S ^b   Novelli, G ^a,b   Sangiuolo, F ^a,b   D'Apice, M R ^b  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b TOR VERGATA UNIVERSITY HOSPITAL   (Italy)

Author keywords

MLPA; MTM1 variants; Prenatal diagnosis; XLMTM

Indexed keywords

ARGININE; GLUTAMIC ACID; ISOLEUCINE; LEUCINE; VALINE; MYOTUBULARIN; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE;

ARTICLE; CLINICAL ARTICLE; EXON; FEMALE; FETUS; GENE; GENE DELETION; GENE MUTATION; GENE SEGREGATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; INTRON; MALE; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MTM1 GENE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEUROMUSCULAR DISEASE; NONSENSE MUTATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGENY; RNA SPLICING; X LINKED MYOTUBULAR MYOPATHY; ALLELE; AMINO ACID SEQUENCE; BIOPSY; CHEMISTRY; DNA MUTATIONAL ANALYSIS; GENETIC SCREENING; GENETICS; HETEROZYGOTE; INFANT; METABOLISM; MOLECULAR GENETICS; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; NEWBORN; PATHOLOGY; PEDIGREE; PREGNANCY; SEQUENCE ALIGNMENT; SKELETAL MUSCLE;

ALLELES; AMINO ACID SEQUENCE; BIOPSY; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC TESTING; GENOTYPE; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; PEDIGREE; PREGNANCY; PRENATAL DIAGNOSIS; PROTEIN TYROSINE PHOSPHATASES, NON-RECEPTOR; SEQUENCE ALIGNMENT;

EID: 84955202448     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12674     Document Type: Article

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