This disorder is inherited in a recessive<unk>  linked fashion. As a result, males are much more commonly affected than females. It is due to a mutation in VMA21 gene - the human homolog of the yeast Vma21p protein. This gene is located on the long arm of chromosome<unk>  <unk> q28). It is an essential assembly chaperone of the vacuolar ATPase - the principal mammalian proton pump complex. Mutations in this gene increase lysosomal pH. This in turn reduces lysosomal degradative ability and blocks<unk> .
Myopathy, X-linked, with excessive autophagy
Sporadic late-onset nemaline myopathy
Desmin-related myofibrillar myopathy
Variably protease-sensitive prionopathy
Frontotemporal dementia and parkinsonism linked to chromosome 17
Familial encephalopathy with neuroserpin inclusion bodies
Pantothenate kinase-associated neurodegeneration
Hereditary motor and sensory neuropathy with proximal dominance