<unk> -related disorders include Myopathy, isolated mitochondrial, autosomal dominant (IMMD), Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2), Spinal muscular atrophy, Jokela type (SMAJ). Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2) Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2) is a neurodegenerative disorder with high intrafamilial variation with phenotypes such as frontotemporal dementia and/or amyotrophic lateral sclerosis. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. Spinal muscular atrophy, Jokela type (SMAJ) Spinal muscular atrophy, Jokela type (SMAJ) is an autosomal dominant, slowly progressive, lower motor neuron disease. SMAJ is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder results in weakness and mild muscle atrophy later in life. Myopathy, isolated mitochondrial, autosomal dominant (IMMD) Myopathy, isolated mitochondrial, autosomal dominant (IMMD) is a mitochondrial myopathy presenting with severe exercise intolerance, progressive proximal weakness, and lactic acidemia. The disorder is slowly progressive, with later involvement of facial muscles, muscles of the upper limbs, and distal muscles. Others Mutations in<unk>  has also been found to be associated with cerebellar ataxia, frontotemporal dementia (FTD), and other mitochondrial diseases.
CHCHD10
GXMO
PANO1
PIM2
AHDC1
SMN1
INAH 3
CoWIN