The Journal of Pathology. 2005. 207(4): p. 436-44. [162] Zhang, C., et al., Unusual pattern of mitochondrial DNA deletions in skeletal muscle of an adult human with chronic fatigue syndrome. [mitobreak.portugene.com]

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6, is also known as progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6, and has symptoms including muscle cramp, myalgia and dyspnea [malacards.org]

Exertional dyspnea MedGen UID: 68549 • Concept ID: C0231807 • Sign or Symptom Elevated serum creatine phosphokinase MedGen UID: 69128 • Concept ID: C0241005 • Finding An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase [ncbi.nlm.nih.gov]

Generalized amyotrophy Sleep apnea Difficulty walking Apnea Dyspnea Tremor Elevated serum creatine phosphokinase Distal upper limb muscle weakness Distal lower limb muscle weakness Sensorimotor neuropathy Foot dorsiflexor weakness Areflexia Palmomental [mendelian.co]

In the muscular dystrophies, which tend to manifest in childhood or adolescence, dyspnea, cardiac abnormalities, contractures, scapular winging, calf hypertrophy, and skeletal deformities may be present in addition to slowly progressive weakness. [clevelandclinicmeded.com]

Exertional dyspnea MedGen UID: 68549 • Concept ID: C0231807 • Sign or Symptom Elevated serum creatine phosphokinase MedGen UID: 69128 • Concept ID: C0241005 • Finding An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase [ncbi.nlm.nih.gov]

[…] pain Abnormality of metabolism/homeostasis Ophthalmoparesis Myotonia Cataract Hyperlordosis Decreased facial expression Tip-toe gait Limb-girdle muscle weakness Slender build Hypomimic face Progressive external ophthalmoplegia Obstructive sleep apnea Exertional [mendelian.co]

Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis. J Hepatol 1999 ; 30 : 149 -155. Lightowlers RN, Chinnery PF, Turnbull DM, Howell N. [clinchem.aaccjnls.org]

Deafness OMIM:178650 Pulmonic Stenosis, Atrial Septal Defect, and Unique Electrocardiographic Abnormalities OMIM:178800 Pupil, Egg-Shaped OMIM:178900 Pupillary Membrane, Persistence of OMIM:613179 Purine Nucleoside Phosphorylase Deficiency OMIM:179000 Purpura [informatics.jax.org]

Clinical examination indicated cachexia (39 kg, 166 cm), diffuse muscle wasting, abdominal distention, bilateral external ophthalmoplegia, ptosis, gait ataxia, and lower limb hypoesthesia. [em-consulte.com]

UREMIA; HYPOTHYROIDISM; MOTOR NEURON DISEASE; etc.). (From Adams et al., Principles of Neurology, 6th ed, p1398) External ophthalmoplegia MedGen UID: 57662 • Concept ID: C0162292 • Disease or Syndrome Paralysis of the external ocular muscles. [ncbi.nlm.nih.gov]

Gowers sign MedGen UID: 108389 • Concept ID: C0575071 • Finding A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs. [ncbi.nlm.nih.gov]

sign Muscle cramps Cerebellar atrophy Dysphagia Intellectual disability Global developmental delay Infantile onset Gait disturbance Obesity Depressed nasal bridge Areflexia of lower limbs Hyperactivity Intellectual disability, severe Respiratory distress [mendelian.co]