Synonyms for xmea or Related words with xmea

xanthinuria              xanthogranulomatous              xlag              nephronophthisis              ibmpfd              acrocallosal              lhon              fraxa              nonsyndromic              edmd              idomim              arpkd              fraxe              progeria              includedgene              hgps              alagille              hypophosphatasia              iosca              wtmolesbayhydrol              narp              fxtas              jsrd              manbb              fshd              xlh              autosomalrecessive              dyskeratosis              progeroid              adpkd              cerebrotendinous              sclerosteosis              cardiofacial              proteininteracting              nipbl              fukutin              mngie              lincl              frataxin              fsgs              oculopharyngodistal              emerin              autosomaldominant              spartin              sarcoglycan              fcyt              optn              rpgr              mentalretardation              myodystrophy             



Examples of "xmea"
X-linked myopathy with excessive autophagy (XMEA) is a rare childhood onset disease characterized by slow progressive vacuolation and atrophy of skeletal muscle. There is no known cardiac or intellectual involvement.
X-linked myopathy with excessive autophagy is a rare genetic disease resulting from mutations in the VMA21 gene. The disease has a childhood onset and results in a slowly progressive muscle weakness, typically beginning in the legs, and some patients can eventually require wheelchair assistance with advanced age. The Vma21 protein assists in assembly of the V-ATPase, and XMEA associated mutations result in decreased activity of the V-ATPase and increased lysosomal pH.