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Browse result for Autosomal recessive centronuclear myopathy
※ introduction Centronuclear myopathies (CNM) are a group of congenital myopathies where cell nuclei are abnormally located in the center of muscle cells instead of their normal location at the periphery.
Symptoms of CNM include severe hypotonia, hypoxia-requiring breathing assistance, and scaphocephaly. Among centronuclear myopathies, the X-linked myotubular myopathy form typically presents at birth, and is thus considered a congenital myopathy. However, some centronuclear myopathies may present later in life.
Reference
Wiki: Autosomal recessive centronuclear myopathy
Reference
Wiki: Autosomal recessive centronuclear myopathy
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD01405 | O00499 | 274 | BIN1 | Myc box-dependent-interacting protein 1 | Homo sapiens |
