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]

The German consanguineous parents of Turkish descent are heterozygous, and two healthy siblings are heterozygous for the mutation and homozygous for the normal allele, respectively. [pnas.org]

The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running [diseaseinfosearch.org]

You’re spelling words, “cat, dog, fish, Ethan…” and trying to mimic us when we speak. You’re learning to speak through an AAC app and learning more sign language words than I can count. (We suspect you’re creeping up to 100 words!) [themighty.com]

Most patients were characterized by similar clinical features, such as high-arched palate, long fingers, elongated myopathic face, chest deformity, dysphagia, respiratory insufficiency, and bulbar muscle weakness. [link.springer.com]

Patients may also exhibit dysphagia, respiratory insufficiency, foot deformities, arch palate, scoliosis, chest deformities and superior and inferior limbs contractures 1-7. [scielo.br]

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]

Scoliosis and lordosis pose technical difficulties with regard to regional anesthesia. Post delivery, women with nemaline myopathy need social support systems for mobilization and care of newborn. [neurologyindia.com]

Angers, France (5) Department of Neuropathology, Charité - Universitätsmedizin Berlin, Berlin, Germany (6) Institute of Neuropathology, University Hospital Zürich, Zürich, Switzerland (7) Department of Neurology, University Hospitals Leuven, Leuven, [ojrd.biomedcentral.com]

People with X-linked myotubular myopathy may also have weakness in the muscles that control eye movement (ophthalmoplegia), weakness in other muscles of the face, and absent reflexes (areflexia).In X-linked myotubular myopathy, muscle weakness often disrupts [icdlist.com]

Diagnosis is made based upon clinical signs such as muscle weakness, absent or low deep tendon reflexes (hyporeflexia), and a high-arched palate, along with electron-dense aggregates, called nemaline rods, being observed at the microscopic level within [en.wikipedia.org]

gait Throat weakness Causes - Nemaline Myopathy 2 Not supplied. [checkorphan.org]

After treatment with pyridostigmine, prednisome, and azathioprine, dysphasia, dysarthria, and ptosis were mildly alleviated. Recently, the patient presented exacerbating weakness in proximal muscles of the limbs with obvious muscle fasciculation. [journals.lww.com]

I’ll never forget the moment your doctor and team brought us into this little, windowless room off the PICU. The picture they painted of your future felt bleak. [themighty.com]