Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation

Orphanet Journal of Rare Diseases

Volumn 5, Issue 1, 2010, Pages

  Böhm, Johann ^a,b,c,d,e   Yiş, Uluç ^f   Ortaç, Ragp ^g   Çakmakç, Handan ^h   Kurul, Semra Hiz ^h   Dirik, Eray ^h   Laporte, Jocelyn ^a,b,c,d,e  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^b INSERM   (France)

^c CNRS   (France)

^d UNIVERSITÉ DE STRASBOURG   (France)

^e Paris Sciences et Lettres   (France)

^f Gaziantep Children's Hospital   (Turkey)

^g Behcet Uz Children's Hospital   (Turkey)

^h DOKUZ EYLUL UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

AMPHIPHYSIN; AMPHIPHYSIN 2; CREATINE KINASE; UNCLASSIFIED DRUG; BIN1 PROTEIN, HUMAN; NUCLEAR PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TUMOR SUPPRESSOR PROTEIN;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BREATHING DISORDER; CASE REPORT; CENTRONUCLEAR MYOPATHY; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; CREATINE KINASE BLOOD LEVEL; ELECTROCARDIOGRAPHY; ELECTROMYOGRAPHY; EXON; EXTENSOR MUSCLE; FACE MUSCLE; FEMALE; GENE SEGREGATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEART ARRHYTHMIA; HUMAN; INTELLIGENCE QUOTIENT; MALE; MENTAL DEFICIENCY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OPHTHALMOPLEGIA; PERONEUS MUSCLE; PHENOTYPIC VARIATION; PTOSIS; SOLEUS MUSCLE; TENDON REFLEX; THIGH; TIBIALIS ANTERIOR MUSCLE; CONSANGUINITY; GENETICS; MYOPATHY; PATHOPHYSIOLOGY; RECESSIVE GENE; REVIEW; STOP CODON;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; CODON, NONSENSE; CONSANGUINITY; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MUSCLE WEAKNESS; MYOPATHIES, STRUCTURAL, CONGENITAL; NUCLEAR PROTEINS; TUMOR SUPPRESSOR PROTEINS;

EID: 78649591932     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-5-35     Document Type: Article

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