myopathy with excessive autophagy, X-linked

An X-linked recessive disorder (OMIM:310440) of childhood onset characterised by progressive vacuolisation and atrophy of the proximal muscles of the legs, progressing slowly to involve other skeletal muscles over time. The phenotype is due to an increase of lysosomal pH from 4.7 to 5.2, which reduces lysosomal degradative ability and blocks autophagy. This reduces cellular free amino acids, upregulating the mTOR pathway and mTOR-dependent macroautophagy, resulting in proliferation of large and ineffective autolysosomes that engulf cytoplasm, merge, and cause cytoplasmic vacuolisation.
Molecular pathology
Caused by defects of VMA21, which encodes a chaperone required for the assembly of lysosomal vacuolar ATPase.

单词	myopathy with excessive autophagy, x-linked
释义	myopathy with excessive autophagy, X-linked myopathy with excessive autophagy, X-linked An X-linked recessive disorder (OMIM:310440) of childhood onset characterised by progressive vacuolisation and atrophy of the proximal muscles of the legs, progressing slowly to involve other skeletal muscles over time. The phenotype is due to an increase of lysosomal pH from 4.7 to 5.2, which reduces lysosomal degradative ability and blocks autophagy. This reduces cellular free amino acids, upregulating the mTOR pathway and mTOR-dependent macroautophagy, resulting in proliferation of large and ineffective autolysosomes that engulf cytoplasm, merge, and cause cytoplasmic vacuolisation. Molecular pathology Caused by defects of VMA21, which encodes a chaperone required for the assembly of lysosomal vacuolar ATPase.
随便看	common iliac venous pressure common iliac vessels common image format common image processor common imagery exploitation segment common imagery ground/surface system common imagery interoperability facilities common imagery interoperability profile common imagery interoperability working group common imagery interoperable facility common imagery processor common image structure data rate common impedance coupling common import file format common import format file common improvement program common incident reporting system common indexing protocol common industrial protocol common industry format common industry material identification standard common information common information environment common information exchange environment common information exchange glossary