Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
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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
- Distal myopathy
- Amyotrophic lateral sclerosis
- Motor neuron disease
- Muscular dystrophy
- Bulbospinal muscular atrophy
- Autosomal dominant slowed nerve conduction velocity
- Distal hereditary motor neuropathy type 1
- Proximal spinal muscular atrophy
- Duchenne muscular dystrophy
- Emery-Dreifuss muscular dystrophy
- Limb-girdle muscular dystrophy
- Spinocerebellar ataxia with axonal neuropathy type 1
- Becker muscular dystrophy
- Microcephaly-complex motor and sensory axonal neuropathy syndrome
- Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome