Reichmann, Adult Onset Lipid Storage in Gastric Mucosa and Skeletal Muscle Fibers Associated with Gastric Pain, Progressive Muscle Weakness and Partial Deficiency of Cytochrome C Oxidase, Pathology - Research and Practice, 187, 1, (85), (1991). [doi.org]

Macroglossia disappeared by age 4 months. Blood lactic acid declined steadily and was normal by 14 months of age. Histochemical and ultrastructural studies of muscle biopsy specimens obtained at 1 and 7 months… CONTINUE READING [semanticscholar.org]

At age 4 1/2 months, she had generalized weakness, hypotonia, areflexia, and macroglossia. She developed cyanosis and respiratory failure, and marked cardiomegaly was noted. She died at age 8 1/2 months of cardiac arrest. [unboundmedicine.com]

Macroglossia disappeared by age 4 months. Blood lactic acid declined steadily and was normal by 14 months of age. [doi.org]

Two patients had facial muscle involvement and high-arched palate. [pediatricneurologybriefs.com]

M.Teresa García-Silva, Antonia Ribes, Yolanda Campos, Barbara Garavaglia and Joaquin Arenas, Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria, Pediatric Neurology, 17, 2, (165), (1997). Mohammed Ghamdi, Dawna L. [doi.org]

Clinically, patients had severe generalized muscle hypotonia and weakness from birth to 3 months of age. Two patients had facial muscle involvement and high-arched palate. [pediatricneurologybriefs.com]

At age 7 months neurological examination revealed marked generalized muscle weakness and wasting, diffuse muscle hypotonia and no deep tendon reflexes. [docslide.net]

Richard Koenigsberger and Darryl C Devivo}, journal {Annals of neurology}, year {1981}, volume {14 2}, pages { 226-34 } } Published in Annals of neurology 1981 DOI: 10.1002/ana.410140209 A 2-week-old boy had profound generalized weakness, hypotonia, hyporeflexia [semanticscholar.org]

Abstract A 2‐week‐old boy had profound generalized weakness, hypotonia, hyporeflexia, macroglossia, and severe lactic acidosis. The infant improved spontaneously: he held his head at 4 1/2 months, rolled over at 7 months, and walked by 16 months. [doi.org]

At age 4 1/2 months, she had generalized weakness, hypotonia, areflexia, and macroglossia. She developed cyanosis and respiratory failure, and marked cardiomegaly was noted. She died at age 8 1/2 months of cardiac arrest. [unboundmedicine.com]

[…] thiamine pyrophosphokinase 230 deficiency/Thiamine Metabolism Dysfunction Syndrome-5 (THMD5), Spinocerebellar ataxia-28 (SCA28), autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN), Dominant Optic Atrophy (DOA), cerebellar ataxia, areflexia [brevets-patents.ic.gc.ca]

Muscle biopsy showed variation in fiber size, and numerous ragged-red fibers that were COX negative. Northern blot analysis revealed decreased levels of mitochondrial transfer RNA-glutamate molecules. [pediatricneurologybriefs.com]