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