Severe early-onset axonal neuropathy due to MFN2 deficiency
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Zentrum für neuromuskuläre Erkrankungen im Kindesalter am Universitätsklinikum Freiburg
Zentrum für neuromuskuläre Erkrankungen im Kindesalter am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Breisacher Str. 62
79106 Freiburg
- Muscular dystrophy
- Bulbospinal muscular atrophy
- Autosomal dominant slowed nerve conduction velocity
- Motor neuron disease
- Distal hereditary motor neuropathy type 1
- Distal myopathy
- Amyotrophic lateral sclerosis
- Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
- Microcephaly-complex motor and sensory axonal neuropathy syndrome
- Emery-Dreifuss muscular dystrophy
- Becker muscular dystrophy
- Limb-girdle muscular dystrophy
- Spinocerebellar ataxia with axonal neuropathy type 1
- Duchenne muscular dystrophy
- Proximal spinal muscular atrophy