This report describes congenital myopathy 10A, severe variant, an autosomal recessive form of congenital myopathy. The human gene implicated in this disease is MEGF10, which encodes a protein that contains multiple EGF-like domains and plays a role in cell adhesion, motility and proliferation, apoptotic cell phagocytosis, and amyloid-beta peptide uptake in the brain. There is a single fly ortholog, drpr, for which classical amorphic and loss-of-function alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated. Dmel\drpr is also orthologous to three other genes in human, MEGF11, PEAR1, and MEGF6.
The human MEGF10 gene has not been introduced into flies.
Animals homozygous for an amorphic mutation of Dmel\drpr survive to adulthood, but show an age-dependent decline in locomotor activity. In larval, pupal, and adult stages, defects in phagocytic clearance of debris in neurons are observed following injury or normal dendritic pruning. Physical and genetic interactions have been described for drpr; see below and in the gene report for drpr.
[updated July 2026 by FlyBase; FBrf0222196]
Congenital myopathy is a term for any genetic muscle disorder that is typically noticed at birth and includes weakness and lack of muscle tone. Some congenital myopathies may not show symptoms until infancy or childhood. There are many types of congenital myopathy with varying severity. Some symptoms may remain stable or progress slowly. The following is a range of symptoms: lack of muscle control and weakness; difficulty breathing; difficulty eating; slow to reach developmental goals; delayed motor skills; skeletal problems. (https://www.ninds.nih.gov/health-information/disorders/congenital-myopathy#:~:text=Congenital%20myopathy)
[CONGENITAL MYOPATHY 10A, SEVERE VARIANT; CMYO10A](https://omim.org/entry/614399)
[MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 10; MEGF10](https://omim.org/entry/612453)
Congenital myopathy-10A (CMYO10A) is a severe autosomal recessive skeletal muscle disorder characterized by generalized hypotonia, respiratory insufficiency, and poor feeding apparent from birth. Decreased fetal movements may be observed. More variable features include high-arched palate, distal joint contractures, foot deformities, scoliosis, areflexia, and dysphagia. Many patients show eventration of the diaphragm. Affected individuals become ventilator-dependent in the first months or years of life and never achieve walking; many die in childhood (Logan et al., 2011, pubmed:22101682). [from MIM:614399; 2026.07.21]
Congenital myopathy-10A (CMYO10A) is caused by homozygous or compound heterozygous mutation in the MEGF10 gene on chromosome 5q23. [from MIM:614399; 2026.07.21]
Muscle biopsies from affected individuals show myopathic changes, replacement of myofibers with fatty tissue, small and incompletely fused muscle fibers, and variation in fiber size. Short regions of sarcomeric disorganization with few or no mitochondria (minicores) have been observed in some cases. [from UniProt:Q96KG7; 2016.09.08]
The multiple EGF-like domains 10 gene (MEGF10) encodes a protein that plays a role in cell adhesion, motility and proliferation; is a critical mediator of apoptotic cell phagocytosis and amyloid-beta peptide uptake in the brain. [Genetics Home Reference, MEGF10; 2016.09.08]
Many to one: 4 human to 1 Drosophila. The additional human genes are MEGF11, PEAR1, and MEGF6.
