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Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (hot spot mutation - m.3243A>G)
MT-TL1
MELAS
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Diabetes, mitochondrial (hot spot mutation - m.3243A>G, MTTL1 (tRNA-Leu) )
MT-TL1
MELAS
Centrum Medische Genetica - UZ Antwerpen
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (full sequencing)
MT-TL1
MELAS
Centrum Medische Genetica - UZ Brussel VUB
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (hot spot mutation - m.3243A>G)
MT-TL1
MELAS
Centrum Medische Genetica - UZ Brussel VUB
Segawa syndrome (GCH1 gene)
GCH1
Autosomal dominant dopa-responsive dystonia
,
GTP cyclohydrolase I deficiency
Centrum Medische Genetica - UZ Brussel VUB
ACTH-independent macronodular adrenal hyperplasia 2 / Cushing syndrome
ARMC5
Cushing syndrome due to bilateral macronodular adrenocortical disease
Centre de Génétique Médicale UCL
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