MD classification has become increasingly complex. The classification and gene information presented here is based on the Online Mendelian Inheritance in Man (OMIM) database (http://omim.org), the GeneCards database (www.genecards.org), the MalaCards human disease database (www.malacards.org), the Orphanet epidemiological database (www.orpha.net) and the Neuromuscular Disorders Journal list of muscle diseases. AR: autosomal recessive; AD: autosomal dominant; X-R: X-linked; ECM: extracellular matrix; MTJ: myotendinous junction; WWS: Walker-Warburg syndrome; MEB: muscle-eye-brain disease; ?: putative function.