The nonsense mutation described in ANM results in a truncated TnT gene product, absence of TnT from slow skeletal muscle fibers, and progressive weakness with death in childhood. [n.neurology.org]

Lehtokari VL, Pelin K, Donner K et al : Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin. Eur J Hum Genet 2008; 16 : 1055–1061. 6. [nature.com]

[…] myopathic abnormalities 0003458 Hip contracture 0003273 Motor delay 0001270 Neonatal hypotonia Low muscle tone, in neonatal onset 0001319 Pectus carinatum Pigeon chest 0000768 Progressive muscle weakness 0003323 Proximal amyotrophy 0007126 Shoulder flexion [rarediseases.info.nih.gov]

Most common symptoms of NEMALINE MYOPATHY 5; NEM5 Autosomal recessive inheritance Motor delay Myopathy Flexion contracture Skeletal muscle atrophy More info about NEMALINE MYOPATHY 5; NEM5 SOURCES: MONDO OMIM ORPHANET GARD MESH UMLS DOID Potential gene [mendelian.co]

contractures, most probably because of the hypercontractility caused by the mutant protein in nemaline myopathy and/or core-rod myopathy patients. 21 TNNT1 : a recessive nonsense founder variant is present in the Old Order Amish population. [nature.com]

As of 2004, genetic testing was available on a clinical basis for one gene, the ACTA1 gene located on the long arm of chromosome 1. About 15% of NM cases are due to mutations in this gene. [encyclopedia.com]

Clinical Characteristics General description (for patients): Amish nemaline myopathy presents in the newborn period with tremors, especially in muscles of the jaw and lower limbs. [wohproject.org]

In the first months of life, affected infants have tremors with hypotonia and mild contractures of the shoulders and hips. [unboundmedicine.com]

A rare form of nemaline myopathy known as Amish Nemaline Myopathy has only been seen in a genetically isolated cohort of Old Order Amish patients who may additionally present with tremors in the first 2-3 months of life. [ncbi.nlm.nih.gov]

Fogel Elsevier Health Sciences, ٠٦‏/١١‏/٢٠١٣ - 281 من الصفحات 0 مراجعات This issue of Neurologic Clinics features a review of clinical neurogenetics as it pertains to the following disorders: Huntington Disease; Autism/ASD;Fragile X Tremor Ataxia Syndrome [books.google.com]