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