Autosomal recessive centronuclear myopathy

An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.



Input patient's signs and symptoms


Narrow down the case reports



Total: 2 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(17.5%)		 21129173
(3014877)
 Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.
Bohm J, Yis U, Ortac R, Cakmakc H, Kurul SH, Dirik E, Laporte J.
Orphanet J Rare Dis. 2010;5:35.
Generalized muscle weakness
BIN1 DNM2 MTM1
Adaptor Proteins, Signal Transducing Codon, Nonsense Congenital Structural Myopathy Females Genes, Recessive Homo sapiens Male Muscle Weakness Nuclear Proteins Tumor Suppressor Proteins
1
(17.5%)		 20476667
 Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation.
Mejaddam AY, Nennesmo I, Sejersen T.
Acta Myol. 2009;28(3):91-3.
Hypotonia
BIN1
c|SUB|A|1723|T;RS#:121909275
Codon, Nonsense Congenital Structural Myopathy Genes, Recessive Genetic Association Studies Homo sapiens Homozygote Male Nerve Tissue Proteins Phenotype
        

Phenotype(s) retrieved from Orphanet

    Total: 36

HPO ID Term Frequency
HP:0000218 High palate Frequent (79-30%)
HP:0000278 Retrognathia Frequent (79-30%)
HP:0001270 Motor delay Frequent (79-30%)
HP:0001290 Generalized hypotonia Frequent (79-30%)
HP:0002093 Respiratory insufficiency Frequent (79-30%)
HP:0002515 Waddling gait Frequent (79-30%)
HP:0003323 Progressive muscle weakness Frequent (79-30%)
HP:0003391 Gowers sign Frequent (79-30%)
HP:0003551 Difficulty climbing stairs Frequent (79-30%)
HP:0003700 Generalized amyotrophy Frequent (79-30%)
HP:0009046 Difficulty running Frequent (79-30%)
HP:0010628 Facial palsy Frequent (79-30%)
HP:0000160 Narrow mouth Occasional (29-5%)
HP:0000193 Bifid uvula Occasional (29-5%)
HP:0000276 Long face Occasional (29-5%)
HP:0000411 Protruding ear Occasional (29-5%)
HP:0000597 Ophthalmoparesis Occasional (29-5%)
HP:0000602 Ophthalmoplegia Occasional (29-5%)
HP:0000750 Delayed speech and language development Occasional (29-5%)
HP:0001256 Intellectual disability, mild Occasional (29-5%)
HP:0001260 Dysarthria Occasional (29-5%)
HP:0001284 Areflexia Occasional (29-5%)
HP:0001349 Facial diplegia Occasional (29-5%)
HP:0001618 Dysphonia Occasional (29-5%)
HP:0001654 Abnormal heart valve morphology Occasional (29-5%)
HP:0001712 Left ventricular hypertrophy Occasional (29-5%)
HP:0001761 Pes cavus Occasional (29-5%)
HP:0001762 Talipes equinovarus Occasional (29-5%)
HP:0001999 Abnormal facial shape Occasional (29-5%)
HP:0003273 Hip contracture Occasional (29-5%)
HP:0003307 Hyperlordosis Occasional (29-5%)
HP:0003403 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Occasional (29-5%)
HP:0003687 Centrally nucleated skeletal muscle fibers Occasional (29-5%)
HP:0003691 Scapular winging Occasional (29-5%)
HP:0003803 Type 1 muscle fiber predominance Occasional (29-5%)
HP:0100807 Long fingers Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0002878 Respiratory failure 1


Causative gene(s) retrieved from Orphanet

    Total: 4

Gene Symbol Gene Name Entrez Gene ID
TTN titin 7273
SPEG striated muscle enriched protein kinase 10290
RYR1 ryanodine receptor 1 6261
BIN1 bridging integrator 1 274