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1. Limb-girdle muscular dystrophy related to LAMA2 mutations: an unusual familial coincidence responsible for the phenotypic variability and diagnostic difficulties Recessive mutations in LAMA2 commonly cause a severe early-onset congenital muscular dystrophy (CMD1A) and more rarely, a late-onset limb-girdle muscular dystrophy (LGMD). This mild phenotype is explained by a partial deficiency of the laminin α2 chain. Here, we report a non-consanguineous family with three subjects affected by a LGMD with...
2. DNAJC12 and dopa-responsive non-progressive Parkinsonism ABSTRACT Biallelic DNAJC12 mutations were described in children with hyperphenylalaninemia, neurodevelopmental delay, and dystonia. We identified DNAJC12 homozygous null variants (c.187A>T;p.K63*and c.79-2A>G;p.V27Wfs*14) in two kindreds with early-onset parkinsonism. Both probands had mild intellectual disability, mild non-progressive, motor symptoms, sustained benefit from small dose of levodopa and substantial worsening of symptoms...
3. Inhaling xenon ameliorates l‐dopa‐induced dyskinesia in experimental parkinsonism Movement Disorders, EarlyView. Read More......
4. Parkinsonism without dopamine neuron degeneration in aged l-dopa-responsive dystonia knockin mice Abstract Background: Recent neuroimaging studies implicate nigrostriatal degeneration as a critical factor in producing late-onset parkinsonism in patients with l-dopa-responsive dystonia-causing mutations. However, postmortem anatomical studies do not reveal neurodegeneration in l-dopa-responsive dystonia patients. These contrasting findings make it unclear how parkinsonism develops in l-dopa-responsive dystonia mutation carriers. Methods: We...